ClinVar Miner

Submissions for variant NM_015681.6(B9D1):c.316G>A (p.Val106Met)

gnomAD frequency: 0.00001  dbSNP: rs770853834
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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 RCV001338974 SCV001532684 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-01-06 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 106 of the B9D1 protein (p.Val106Met). This variant is present in population databases (rs770853834, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with B9D1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1036029). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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