ClinVar Miner

Submissions for variant NM_015681.6(B9D1):c.113A>G (p.Gln38Arg)

dbSNP: rs1248771637
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972276 SCV002212702 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-10-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with B9D1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 38 of the B9D1 protein (p.Gln38Arg). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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