ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1372C>T (p.Pro458Ser)

gnomAD frequency: 0.00002  dbSNP: rs369747694
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707525 SCV000836626 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002386278 SCV002698027 uncertain significance Cardiovascular phenotype 2020-08-08 criteria provided, single submitter clinical testing The p.P458S variant (also known as c.1372C>T), located in coding exon 8 of the FLNC gene, results from a C to T substitution at nucleotide position 1372. The proline at codon 458 is replaced by serine, an amino acid with similar properties. This amino acid position is not 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.
Revvity Omics, Revvity RCV003144574 SCV003833144 uncertain significance not provided 2021-12-12 criteria provided, single submitter clinical testing

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