ClinVar Miner

Submissions for variant NM_015681.6(B9D1):c.234C>G (p.Asn78Lys)

dbSNP: rs2152273834
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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 RCV001922250 SCV002150314 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2021-09-21 criteria provided, single submitter clinical testing 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. 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 disruptive. This variant has not been reported in the literature in individuals affected with B9D1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with lysine at codon 78 of the B9D1 protein (p.Asn78Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine.

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