ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.989G>A (p.Arg330His)

gnomAD frequency: 0.00001  dbSNP: rs771483345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001945396 SCV002193311 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-11-15 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on B3GALNT2 protein function. ClinVar contains an entry for this variant (Variation ID: 1414834). This variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. This variant is present in population databases (rs771483345, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 330 of the B3GALNT2 protein (p.Arg330His).
Revvity Omics, Revvity RCV001945396 SCV003829723 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-08-16 criteria provided, single submitter clinical testing

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