ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.400G>C (p.Asp134His)

gnomAD frequency: 0.00019  dbSNP: rs370993648
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001339971 SCV001533756 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 134 of the B3GALNT2 protein (p.Asp134His). This variant is present in population databases (rs370993648, gnomAD 0.08%). 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: 1036899). 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.
Revvity Omics, Revvity RCV001339971 SCV003829694 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003284221 SCV003954003 uncertain significance Inborn genetic diseases 2023-05-09 criteria provided, single submitter clinical testing The c.400G>C (p.D134H) alteration is located in exon 4 (coding exon 4) of the B3GALNT2 gene. This alteration results from a G to C substitution at nucleotide position 400, causing the aspartic acid (D) at amino acid position 134 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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