ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4819A>G (p.Ser1607Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003782339 SCV004577748 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004366574 SCV005017711 uncertain significance Cardiovascular phenotype 2024-02-16 criteria provided, single submitter clinical testing The p.S1607G variant (also known as c.4819A>G), located in coding exon 28 of the FLNC gene, results from an A to G substitution at nucleotide position 4819. The serine at codon 1607 is replaced by glycine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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