ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5287C>A (p.Pro1763Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002344486 SCV002644757 uncertain significance Cardiovascular phenotype 2022-03-08 criteria provided, single submitter clinical testing The p.P1763T variant (also known as c.5287C>A), located in coding exon 31 of the FLNC gene, results from a C to A substitution at nucleotide position 5287. The proline at codon 1763 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Invitae RCV003776082 SCV004575332 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-15 criteria provided, single submitter clinical testing

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