M2V (p.Met2Val) variant of FLNC (Filamin-C)
M2V (p.Met2Val) 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.
M2V (p.Met2Val) variant details
- p.Met2Val
- rs2536604654
- ClinGen CA369215332
- ClinVar RCV006624340
- 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)