ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met)

gnomAD frequency: 0.00011  dbSNP: rs374645024
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576991 SCV001804293 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV001866069 SCV002270244 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2022-09-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 299 of the B3GALT6 protein (p.Leu299Met). This variant is present in population databases (rs374645024, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with B3GALT6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1208606). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002501932 SCV002814662 uncertain significance Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 2022-03-17 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001576991 SCV005407949 uncertain significance not provided 2023-09-22 criteria provided, single submitter clinical testing

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