ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1547del (p.Thr516fs)

dbSNP: rs869025211
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003522947 SCV004294235 pathogenic Bardet-Biedl syndrome 2022-11-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BBS10 protein in which other variant(s) (p.Val707*) have been determined to be pathogenic (PMID: 20472660, 22773737, 25982971, 27486776). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 217440). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 26518167). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr516Asnfs*8) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 208 amino acid(s) of the BBS10 protein.
Department Of Medical Genetics, Faculty Of Medicine, Ege University RCV000207760 SCV000255613 pathogenic Bardet-Biedl syndrome 10 2015-10-05 no assertion criteria provided research

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