V28M (p.Val28Met) variant of LAMA3 (Laminin subunit alpha-3)
V28M (p.Val28Met) in LAMA3 (Laminin subunit alpha-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; LAMA3-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
V28M (p.Val28Met) variant details
- p.Val28Met
- rs761308269
- ClinGen CA8914176
- ClinVar RCV002694627
- ClinVar RCV004538880
- Uncertain significance
- Inborn genetic diseases; LAMA3-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.0326
- REVEL 0.01
- CADD 2.25
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Inborn genetic diseases; LAMA3-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)