ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3851G>A (p.Gly1284Asp)

gnomAD frequency: 0.00002  dbSNP: rs1041643602
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001362107 SCV001558109 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002357230 SCV002622757 uncertain significance Cardiovascular phenotype 2022-06-14 criteria provided, single submitter clinical testing The p.G1284D variant (also known as c.3851G>A), located in coding exon 22 of the FLNC gene, results from a G to A substitution at nucleotide position 3851. The glycine at codon 1284 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. 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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