ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.446del (p.Phe149fs) (rs1553151257)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651597 SCV000773451 uncertain significance Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, progeroid type, 2 2017-10-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the B3GALT6 gene (p.Phe149Serfs*129). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 181 amino acids of the B3GALT6 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with B3GALT6-related disease. 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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