ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.64C>T (p.Pro22Ser)

gnomAD frequency: 0.00005  dbSNP: rs368812043
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000816369 SCV000956873 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2022-12-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003344073 SCV004051225 uncertain significance Cardiovascular phenotype 2023-06-16 criteria provided, single submitter clinical testing The p.P22S variant (also known as c.64C>T), located in coding exon 1 of the FLNC gene, results from a C to T substitution at nucleotide position 64. The proline at codon 22 is replaced by serine, an amino acid with 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.

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