ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser)

gnomAD frequency: 0.00001  dbSNP: rs763930207
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001964198 SCV002250858 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002484860 SCV002779734 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2021-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004044713 SCV005017715 uncertain significance Cardiovascular phenotype 2023-12-07 criteria provided, single submitter clinical testing The p.G1820S variant (also known as c.5458G>A), located in coding exon 33 of the FLNC gene, results from a G to A substitution at nucleotide position 5458. The glycine at codon 1820 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. 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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