ClinVar Miner

Submissions for variant NM_015681.6(B9D1):c.362T>C (p.Met121Thr)

gnomAD frequency: 0.00001  dbSNP: rs1177935761
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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 RCV001876369 SCV002125714 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 121 of the B9D1 protein (p.Met121Thr). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1354920). 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 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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