ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5777A>G (p.Tyr1926Cys)

dbSNP: rs376653815
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540690 SCV000651089 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-03-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358572 SCV002652112 uncertain significance Cardiovascular phenotype 2020-05-27 criteria provided, single submitter clinical testing The p.Y1926C variant (also known as c.5777A>G), located in coding exon 35 of the FLNC gene, results from an A to G substitution at nucleotide position 5777. The tyrosine at codon 1926 is replaced by cysteine, an amino acid with highly dissimilar properties. 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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