ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.472del

dbSNP: rs587777826
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001390312 SCV001591996 pathogenic Bardet-Biedl syndrome 2023-04-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 4580). This premature translational stop signal has been observed in individual(s) with BBS2-related conditions (PMID: 11567139). This variant is not present in population databases (gnomAD no frequency). 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. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167).
Fulgent Genetics, Fulgent Genetics RCV002504748 SCV002811618 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-11-25 criteria provided, single submitter clinical testing
OMIM RCV000004842 SCV000025018 pathogenic Bardet-biedl syndrome 1/2, digenic 2001-09-21 no assertion criteria provided literature only

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