ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)

dbSNP: rs863224782
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198771 SCV000255071 uncertain significance Bardet-Biedl syndrome 2021-09-24 criteria provided, single submitter clinical testing This variant, c.1570_1572del, results in the deletion of 1 amino acid(s) of the BBS1 protein (p.Asn524del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 21344540, 32349990). ClinVar contains an entry for this variant (Variation ID: 216741). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000198771 SCV004021211 likely pathogenic Bardet-Biedl syndrome 2023-06-26 criteria provided, single submitter clinical testing Variant summary: BBS1 c.1570_1572delAAC (p.Asn524del) results in an in-frame deletion that is predicted to remove one amino acid from the encoded protein. The variant allele was found at a frequency of 4e-06 in 251490 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1570_1572delAAC has been reported in the literature in both compound heterozygous and homozygous individuals affected with features of Bardet-Biedl Syndrome (e.g., Gerth_2008, Deveault_2011, Forsythe_2017, Saeed_2020, Weisschuh_2020, Nasser_2022). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 21344540, 27659767, 17980398, 35886001, 32349990, 32531858). One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Baylor Genetics RCV001542479 SCV004217370 likely pathogenic Bardet-Biedl syndrome 1 2023-08-18 criteria provided, single submitter clinical testing
Genomics England Pilot Project, Genomics England RCV001542479 SCV001760276 pathogenic Bardet-Biedl syndrome 1 no assertion criteria provided clinical testing

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