ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.434T>C (p.Val145Ala)

gnomAD frequency: 0.00001  dbSNP: rs1684704696
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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 RCV001369168 SCV001565598 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2021-06-16 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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). This sequence change replaces valine with alanine at codon 145 of the B3GALNT2 protein (p.Val145Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine.
Revvity Omics, Revvity RCV001369168 SCV003829715 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-04-03 criteria provided, single submitter clinical testing

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