ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5311C>G (p.Pro1771Ala)

gnomAD frequency: 0.00026  dbSNP: rs200001272
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721389 SCV000532346 likely benign not provided 2021-07-17 criteria provided, single submitter clinical testing
Invitae RCV000555502 SCV000651073 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348227 SCV002647236 uncertain significance Cardiovascular phenotype 2022-08-29 criteria provided, single submitter clinical testing The p.P1771A variant (also known as c.5311C>G), located in coding exon 32 of the FLNC gene, results from a C to G substitution at nucleotide position 5311. The proline at codon 1771 is replaced by alanine, an amino acid with highly similar properties. This alteration was reported in a subject with dilated cardiomyopathy (DCM) who also had variants in other cardiac-related genes (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). 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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