ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4513T>C (p.Tyr1505His)

gnomAD frequency: 0.00002  dbSNP: rs761352737
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208838 SCV001380247 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002339535 SCV002639746 uncertain significance Cardiovascular phenotype 2020-03-05 criteria provided, single submitter clinical testing The p.Y1505H variant (also known as c.4513T>C), located in coding exon 26 of the FLNC gene, results from a T to C substitution at nucleotide position 4513. The tyrosine at codon 1505 is replaced by histidine, 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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