ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.2587C>G (p.Pro863Ala)

gnomAD frequency: 0.00001  dbSNP: rs754750752
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811484 SCV000951752 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-06-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424905 SCV002743968 uncertain significance Cardiovascular phenotype 2020-11-09 criteria provided, single submitter clinical testing The p.P863A variant (also known as c.2587C>G), located in coding exon 17 of the FLNC gene, results from a C to G substitution at nucleotide position 2587. The proline at codon 863 is replaced by alanine, 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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