D31V (p.Asp31Val) variant of FLNC (Filamin-C)
D31V (p.Asp31Val) in FLNC (Filamin-C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Myofibrillar myopathy 5; Distal myopathy with posterior leg and an. The record also includes published literature and structural context.
D31V (p.Asp31Val) variant details
- p.Asp31Val
- rs2536605023
- ClinGen CA369215689
- ClinVar RCV006624347
- Uncertain significance
- not provided; Myofibrillar myopathy 5; Distal myopathy with posterior leg and an
- Missense
- ClinVar: Uncertain significance (not provided; Myofibrillar myopathy 5; Distal myopathy with post)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of… (PMID 34012068)
- Cited in: ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of… (PMID 35802134)