ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.220G>A (p.Asp74Asn)

gnomAD frequency: 0.00001  dbSNP: rs746966446
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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 RCV000651512 SCV000773364 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2021-01-16 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 74 of the B4GAT1 protein (p.Asp74Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs746966446, ExAC 0.01%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with B4GAT1-related disease.

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