ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)

gnomAD frequency: 0.00002  dbSNP: rs1031265089
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001315777 SCV001506369 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499610 SCV002777451 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-09-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145558 SCV003833170 uncertain significance not provided 2019-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034369 SCV005017679 uncertain significance Cardiovascular phenotype 2023-11-16 criteria provided, single submitter clinical testing The p.G771S variant (also known as c.2311G>A), located in coding exon 15 of the FLNC gene, results from a G to A substitution at nucleotide position 2311. The glycine at codon 771 is replaced by serine, an amino acid with similar properties. This variant has been detected once in a cohort with proximal muscle weakness and/or elevated serum creatine kinase (Töpf A et al. Genet Med, 2020 Sep;22:1478-1488). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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