ClinVar Miner

Submissions for variant NM_152490.5(B3GALNT2):c.466G>A (p.Val156Ile)

gnomAD frequency: 0.00009  dbSNP: rs151133469
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429796 SCV000528707 uncertain significance not provided 2023-08-01 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000697530 SCV000826148 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2022-07-19 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 386896). This variant has not been reported in the literature in individuals affected with B3GALNT2-related conditions. This variant is present in population databases (rs151133469, gnomAD 0.03%). This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 156 of the B3GALNT2 protein (p.Val156Ile).
Revvity Omics, Revvity RCV000697530 SCV003829695 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 2019-05-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022413 SCV004913676 uncertain significance Inborn genetic diseases 2024-03-07 criteria provided, single submitter clinical testing The c.466G>A (p.V156I) alteration is located in exon 4 (coding exon 4) of the B3GALNT2 gene. This alteration results from a G to A substitution at nucleotide position 466, causing the valine (V) at amino acid position 156 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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