ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.1069G>A (p.Asp357Asn)

gnomAD frequency: 0.00008  dbSNP: rs138443370
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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 RCV001049842 SCV001213915 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2023-08-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. 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: 846522). This variant is present in population databases (rs138443370, gnomAD 0.03%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 357 of the B3GALNT2 protein (p.Asp357Asn).
Revvity Omics, Revvity RCV001049842 SCV003829716 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-04-08 criteria provided, single submitter clinical testing
GeneDx RCV004768814 SCV005380182 uncertain significance not provided 2023-10-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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