ClinVar Miner

Submissions for variant NM_006876.3(B4GAT1):c.758C>G (p.Thr253Ser)

gnomAD frequency: 0.00011  dbSNP: rs35429253
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000695490 SCV000823994 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2022-07-26 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 253 of the B4GAT1 protein (p.Thr253Ser). This variant is present in population databases (rs35429253, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with B4GAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 573749). 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.
Fulgent Genetics, Fulgent Genetics RCV000695490 SCV000896176 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001559640 SCV001781913 uncertain significance not provided 2020-12-11 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
Ambry Genetics RCV002532305 SCV003708525 uncertain significance Inborn genetic diseases 2021-08-13 criteria provided, single submitter clinical testing The c.758C>G (p.T253S) alteration is located in exon 1 (coding exon 1) of the B4GAT1 gene. This alteration results from a C to G substitution at nucleotide position 758, causing the threonine (T) at amino acid position 253 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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