ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.1208C>T (p.Pro403Leu)

gnomAD frequency: 0.00001  dbSNP: rs369378819
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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 RCV001341606 SCV001535487 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2023-05-08 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) performed at Invitae indicates that this missense variant is not expected to disrupt B3GALNT2 protein function. ClinVar contains an entry for this variant (Variation ID: 1038316). This variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. This variant is present in population databases (rs369378819, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 403 of the B3GALNT2 protein (p.Pro403Leu).
Revvity Omics, Revvity RCV001341606 SCV003829689 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-06-24 criteria provided, single submitter clinical testing

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