ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.410C>T (p.Ser137Leu)

gnomAD frequency: 0.00021  dbSNP: rs140393851
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731342 SCV000621753 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000527424 SCV000653542 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-07-17 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 137 of the B3GALNT2 protein (p.Ser137Leu). This variant is present in population databases (rs140393851, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 452907). 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. 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.
Eurofins Ntd Llc (ga) RCV000731342 SCV000859148 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000527424 SCV003829688 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2023-09-07 criteria provided, single submitter clinical testing

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