ClinVar Miner

Submissions for variant NM_024685.4(BBS10):c.1542del (p.Asp515fs)

dbSNP: rs1057517031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411271 SCV000486632 likely pathogenic Bardet-Biedl syndrome 10 2016-07-07 criteria provided, single submitter clinical testing
Invitae RCV001861388 SCV002242103 pathogenic Bardet-Biedl syndrome 2022-04-07 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 16582908; Invitae). This variant is also known as T514fsX523. ClinVar contains an entry for this variant (Variation ID: 371134). 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. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp515Ilefs*9) in the BBS10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 209 amino acid(s) of the BBS10 protein.

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