ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.232A>C (p.Ser78Arg)

gnomAD frequency: 0.00001  dbSNP: rs746082496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042008 SCV001205666 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445234 SCV002733586 uncertain significance Cardiovascular phenotype 2024-03-01 criteria provided, single submitter clinical testing The p.S78R variant (also known as c.232A>C), located in coding exon 1 of the FLNC gene, results from an A to C substitution at nucleotide position 232. The serine at codon 78 is replaced by arginine, an amino acid with 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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