ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.951+58C>T

dbSNP: rs1856346961
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001175186 SCV001521572 pathogenic Bardet-Biedl syndrome 1 2020-06-03 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001175186 SCV002811555 pathogenic Bardet-Biedl syndrome 1 2021-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002555443 SCV003513808 pathogenic Bardet-Biedl syndrome 2022-05-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (PMID: 25982971). The resulting mRNA is expected to undergo nonsense-mediated decay. ClinVar contains an entry for this variant (Variation ID: 917920). This variant is also known as c.963+58C>T. This variant has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 19858128, 25982971, 31130284). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 10 of the BBS1 gene. It does not directly change the encoded amino acid sequence of the BBS1 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product.
GeneDx RCV003322856 SCV004028326 pathogenic not provided 2023-02-17 criteria provided, single submitter clinical testing Non-canonical splice site variant demonstrated to result in loss of function (Scheidecker et al., 2015); This variant is associated with the following publications: (PMID: 32552793, 25982971, 19858128, 31130284, 32949114, 34448047)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001175186 SCV001338710 uncertain significance Bardet-Biedl syndrome 1 no assertion criteria provided research

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