ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4468C>T (p.Pro1490Ser)

gnomAD frequency: 0.00003  dbSNP: rs754076573
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001320367 SCV001511149 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-05-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035004 SCV005017736 uncertain significance Cardiovascular phenotype 2023-10-17 criteria provided, single submitter clinical testing The p.P1490S variant (also known as c.4468C>T), located in coding exon 26 of the FLNC gene, results from a C to T substitution at nucleotide position 4468. The proline at codon 1490 is replaced by serine, an amino acid with similar properties. This variant has been reported in a cardiomyopathy cohort (Akinrinade O et al. J Cardiovasc Transl Res, 2023 Jul;[ePub ahead of print]). 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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