ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5176C>T (p.Pro1726Ser)

gnomAD frequency: 0.00001  dbSNP: rs529240463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001881283 SCV002141781 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334792 SCV002643700 uncertain significance Cardiovascular phenotype 2023-06-12 criteria provided, single submitter clinical testing The p.P1726S variant (also known as c.5176C>T), located in coding exon 30 of the FLNC gene, results from a C to T substitution at nucleotide position 5176. The proline at codon 1726 is replaced by serine, an amino acid with similar 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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