ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3949A>G (p.Thr1317Ala)

gnomAD frequency: 0.00004  dbSNP: rs377555574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729536 SCV000857207 uncertain significance not provided 2017-10-13 criteria provided, single submitter clinical testing
Invitae RCV001044583 SCV001208388 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002369990 SCV002624419 uncertain significance Cardiovascular phenotype 2024-02-22 criteria provided, single submitter clinical testing The p.T1317A variant (also known as c.3949A>G), located in coding exon 22 of the FLNC gene, results from an A to G substitution at nucleotide position 3949. The threonine at codon 1317 is replaced by alanine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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