ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.31T>G (p.Cys11Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001227730 SCV001400100 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-11-08 criteria provided, single submitter clinical testing This sequence change replaces cysteine with glycine at codon 11 of the B3GALNT2 protein (p.Cys11Gly). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and glycine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with B3GALNT2-related conditions. 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: "Probably Damaging"; 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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