ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.30_39dup (p.Leu14fs)

dbSNP: rs2100993072
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969482 SCV002261779 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2021-11-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu14Alafs*432) in the B3GALT6 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 316 amino acid(s) of the B3GALT6 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with B3GALT6-related conditions. 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.

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