ClinVar Miner

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

gnomAD frequency: 0.00004  dbSNP: rs953296331
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001227730 SCV001400100 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 11 of the B3GALNT2 protein (p.Cys11Gly). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 955142). 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.
Revvity Omics, Revvity RCV001227730 SCV003829706 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-07-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032611 SCV004913673 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.31T>G (p.C11G) alteration is located in exon 1 (coding exon 1) of the B3GALNT2 gene. This alteration results from a T to G substitution at nucleotide position 31, causing the cysteine (C) at amino acid position 11 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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