ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2513C>T (p.Ala838Val)

gnomAD frequency: 0.00009  dbSNP: rs775085661
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821076 SCV000961818 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427057 SCV002742527 uncertain significance Cardiovascular phenotype 2023-05-11 criteria provided, single submitter clinical testing The p.A838V variant (also known as c.2513C>T), located in coding exon 16 of the FLNC gene, results from a C to T substitution at nucleotide position 2513. The alanine at codon 838 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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