ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala)

dbSNP: rs1249919137
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001910641 SCV002194308 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 50 of the B3GALT6 protein (p.Pro50Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly 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 RCV002503610 SCV002789849 uncertain significance Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 2022-04-26 criteria provided, single submitter clinical testing

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