ClinVar Miner

Submissions for variant NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs)

dbSNP: rs1329926209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001780671 SCV002022006 likely pathogenic not provided 2021-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541175 SCV003254043 uncertain significance Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 2023-10-17 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the B3GALT6 gene (p.Arg302Glnfs*142). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 28 amino acid(s) of the B3GALT6 protein and extend the protein by 113 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). 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: 1323966). 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 RCV005006047 SCV005634658 likely pathogenic Al-Gazali syndrome; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; Ehlers-Danlos syndrome, spondylodysplastic type, 2 2024-05-09 criteria provided, single submitter clinical testing

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