ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.15C>A (p.Ser5Arg)

gnomAD frequency: 0.00005  dbSNP: rs759632330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000649110 SCV000770935 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397288 SCV002708631 uncertain significance Cardiovascular phenotype 2021-03-31 criteria provided, single submitter clinical testing The p.S5R variant (also known as c.15C>A), located in coding exon 1 of the FLNC gene, results from a C to A substitution at nucleotide position 15. The serine at codon 5 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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