ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)

gnomAD frequency: 0.00096  dbSNP: rs141528309
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500220 SCV000593581 uncertain significance not specified 2016-12-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726690 SCV000702119 uncertain significance not provided 2016-10-15 criteria provided, single submitter clinical testing
Invitae RCV001086879 SCV001007539 likely benign Bardet-Biedl syndrome 2024-01-26 criteria provided, single submitter clinical testing
New York Genome Center RCV001274039 SCV002764286 uncertain significance Bardet-Biedl syndrome 1 2021-06-30 criteria provided, single submitter clinical testing
GeneDx RCV000726690 SCV004023509 uncertain significance not provided 2023-07-31 criteria provided, single submitter clinical testing Reported along with a second variant in the BBS1 gene in a patient with congenital heart disease in the published literature; however, evidence in support of pathogenicity for this variant was not provided in the report (Jin et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 28991257)
PreventionGenetics, part of Exact Sciences RCV003979884 SCV004797473 likely benign BBS1-related disorder 2020-01-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274039 SCV001457744 likely benign Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing

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