ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) (rs1156913215)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666720 SCV000791065 likely pathogenic Bardet-Biedl syndrome 10 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV000806720 SCV000946734 pathogenic Bardet-Biedl syndrome 2018-10-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS10 gene (p.Arg256*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 468 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 disease. ClinVar contains an entry for this variant (Variation ID: 551609). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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