ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.665A>G (p.Tyr222Cys)

gnomAD frequency: 0.00001  dbSNP: rs113570160
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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 RCV000651509 SCV000773361 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2022-08-09 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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. ClinVar contains an entry for this variant (Variation ID: 541277). This variant has not been reported in the literature in individuals affected with B4GAT1-related conditions. This variant is present in population databases (rs113570160, gnomAD 0.006%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 222 of the B4GAT1 protein (p.Tyr222Cys).

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