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: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731342 SCV000621753 uncertain significance not provided 2024-05-30 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp 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
Ambry Genetics RCV004023625 SCV004913674 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.410C>T (p.S137L) alteration is located in exon 4 (coding exon 4) of the B3GALNT2 gene. This alteration results from a C to T substitution at nucleotide position 410, causing the serine (S) at amino acid position 137 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000731342 SCV005186339 uncertain significance not provided criteria provided, single submitter not provided

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