ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.1394C>T (p.Thr465Ile)

dbSNP: rs1682820322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207787 SCV001379154 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-09-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 465 of the B3GALNT2 protein (p.Thr465Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with B3GALNT2-related conditions. This variant is not present in population databases (ExAC no frequency).

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