ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3713T>C (p.Phe1238Ser)

dbSNP: rs777798089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001309759 SCV001499268 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-06-04 criteria provided, single submitter clinical testing
GeneDx RCV001548025 SCV001767872 uncertain significance not provided 2023-04-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002350563 SCV002620624 uncertain significance Cardiovascular phenotype 2021-09-26 criteria provided, single submitter clinical testing The p.F1238S variant (also known as c.3713T>C), located in coding exon 21 of the FLNC gene, results from a T to C substitution at nucleotide position 3713. The phenylalanine at codon 1238 is replaced by serine, an amino acid with highly dissimilar 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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