ClinVar Miner

Submissions for variant NM_174934.4(SCN4B):c.199C>T (p.Arg67Trp)

gnomAD frequency: 0.00003  dbSNP: rs775614261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171075 SCV000223639 likely benign not specified 2014-10-16 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.
Ambry Genetics RCV000619918 SCV000737668 uncertain significance Cardiovascular phenotype 2016-10-19 criteria provided, single submitter clinical testing The p.R67W variant (also known as c.199C>T), located in coding exon 2 of the SCN4B gene, results from a C to T substitution at nucleotide position 199. The arginine at codon 67 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available 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.

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