ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)

gnomAD frequency: 0.00014  dbSNP: rs775049569
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704195 SCV000833134 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332499 SCV002632272 uncertain significance Cardiovascular phenotype 2021-11-29 criteria provided, single submitter clinical testing The p.G1456A variant (also known as c.4367G>C), located in coding exon 25 of the FLNC gene, results from a G to C substitution at nucleotide position 4367. The glycine at codon 1456 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species; however, alanine is the reference amino acid in other vertebrate species. 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.
Fulgent Genetics, Fulgent Genetics RCV002507233 SCV002778173 uncertain significance Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26 2022-02-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003144564 SCV003833195 uncertain significance not provided 2021-06-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003420256 SCV004106392 uncertain significance FLNC-related disorder 2023-08-10 criteria provided, single submitter clinical testing The FLNC c.4367G>C variant is predicted to result in the amino acid substitution p.Gly1456Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/7-128487829-G-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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