ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3127G>A (p.Asp1043Asn)

gnomAD frequency: 0.00001  dbSNP: rs755896041
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001236122 SCV001408835 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002322131 SCV002607590 uncertain significance Cardiovascular phenotype 2021-02-03 criteria provided, single submitter clinical testing The p.D1043N variant (also known as c.3127G>A), located in coding exon 20 of the FLNC gene, results from a G to A substitution at nucleotide position 3127. The aspartic acid at codon 1043 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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