ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.3114G>A (p.Val1038=)

dbSNP: rs376516180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827366 SCV000969009 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001488885 SCV001693412 likely benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2023-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319938 SCV002607750 uncertain significance Cardiovascular phenotype 2022-01-27 criteria provided, single submitter clinical testing The c.3114G>A variant (also known as p.V1038V), located in coding exon 20 of the FLNC gene, results from a G to A substitution at nucleotide position 3114. This nucleotide substitution does not change the valine at codon 1038. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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