ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.816C>G (p.Ser272Arg)

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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 RCV002795422 SCV003032247 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 272 of the B3GALT6 protein (p.Ser272Arg). This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with B3GALT6-related conditions. 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.
Ambry Genetics RCV004064778 SCV004913699 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.816C>G (p.S272R) alteration is located in exon 1 (coding exon 1) of the B3GALT6 gene. This alteration results from a C to G substitution at nucleotide position 816, causing the serine (S) at amino acid position 272 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV004790247 SCV005407838 uncertain significance not provided 2024-06-28 criteria provided, single submitter clinical testing BP4

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