Submissions for variant NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln)

dbSNP: rs769106207

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001294788	SCV001483682	uncertain significance	Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant	2023-01-28	criteria provided, single submitter	clinical testing	This variant is present in population databases (rs769106207, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2141 of the FLNC protein (p.Arg2141Gln). This variant has not been reported in the literature in individuals affected with FLNC-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 998869).
Revvity Omics, Revvity	RCV003145513	SCV003833061	uncertain significance	not provided	2019-09-25	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund	RCV003145513	SCV005197972	uncertain significance	not provided	2023-07-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003145513	SCV005435651	likely benign	not provided	2024-10-01	criteria provided, single submitter	clinical testing	FLNC: PM2:Supporting, BP1, BP4