ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.2052del (p.Lys684fs)

dbSNP: rs1951753726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224182 SCV001396365 pathogenic Bardet-Biedl syndrome 2019-05-30 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS10 gene (p.Lys684Asnfs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 40 amino acids of the BBS10 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS10-related conditions. This variant disrupts the C-terminus of the BBS10 protein. Other variant(s) that disrupt this region (p.Val707*) have been determined to be pathogenic (PMID: 25982971, 22773737, 27486776, 20472660). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003462763 SCV004217469 likely pathogenic Bardet-Biedl syndrome 10 2023-03-09 criteria provided, single submitter clinical testing

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