ClinVar Miner

Submissions for variant NM_015681.6(B9D1):c.286G>A (p.Gly96Arg)

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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 RCV002885922 SCV003243166 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-07-07 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2037640). This variant has not been reported in the literature in individuals affected with B9D1-related conditions. This variant is present in population databases (rs751788862, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 96 of the B9D1 protein (p.Gly96Arg). 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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