ClinVar Miner

Submissions for variant NM_015681.6(B9D1):c.109G>A (p.Gly37Ser)

gnomAD frequency: 0.00003  dbSNP: rs771997194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000231902 SCV000290166 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 37 of the B9D1 protein (p.Gly37Ser). This variant is present in population databases (rs771997194, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of B9D1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 241064). 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. 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.
PreventionGenetics, part of Exact Sciences RCV004555547 SCV004118078 uncertain significance B9D1-related disorder 2023-05-24 criteria provided, single submitter clinical testing The B9D1 c.109G>A variant is predicted to result in the amino acid substitution p.Gly37Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-19263656-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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