ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2596G>A (p.Asp866Asn)

gnomAD frequency: 0.00006  dbSNP: rs201006462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296238 SCV001485196 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-07-18 criteria provided, single submitter clinical testing
GeneDx RCV002221620 SCV002498921 uncertain significance not provided 2023-08-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV002437008 SCV002745439 uncertain significance Cardiovascular phenotype 2022-03-18 criteria provided, single submitter clinical testing The p.D866N variant (also known as c.2596G>A), located in coding exon 17 of the FLNC gene, results from a G to A substitution at nucleotide position 2596. The aspartic acid at codon 866 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly 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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