ClinVar Miner

Submissions for variant NM_031885.3(BBS2):c.472del (p.Val158Leufs) (rs587777826)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390312 SCV001591996 pathogenic Bardet-Biedl syndrome 2020-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val158Leufs*43) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with BBS2-related conditions (PMID: 11567139). ClinVar contains an entry for this variant (Variation ID: 4580). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004842 SCV000025018 pathogenic Bardet-biedl syndrome 1/2, digenic 2001-09-21 no assertion criteria provided literature only

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