ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.1938T>A (p.Asp646Glu)

dbSNP: rs1347868577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890319 SCV002150509 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004041263 SCV005017720 uncertain significance Cardiovascular phenotype 2024-02-10 criteria provided, single submitter clinical testing The p.D646E variant (also known as c.1938T>A), located in coding exon 12 of the FLNC gene, results from a T to A substitution at nucleotide position 1938. The aspartic acid at codon 646 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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