ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4879C>T (p.Arg1627Cys)

gnomAD frequency: 0.00001  dbSNP: rs760407609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526189 SCV000651045 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341419 SCV002634966 uncertain significance Cardiovascular phenotype 2022-06-22 criteria provided, single submitter clinical testing The p.R1627C variant (also known as c.4879C>T), located in coding exon 28 of the FLNC gene, results from a C to T substitution at nucleotide position 4879. The arginine at codon 1627 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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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