ClinVar Miner

Submissions for variant NM_001040151.2(SCN3B):c.445+3G>A

gnomAD frequency: 0.00001  dbSNP: rs996152549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427385 SCV000515379 likely benign not specified 2015-10-28 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 RCV004022303 SCV005027727 uncertain significance Cardiovascular phenotype 2023-11-17 criteria provided, single submitter clinical testing The c.445+3G>A intronic variant results from a G to A substitution 3 nucleotides after coding exon 3 in the SCN3B gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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