ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)

gnomAD frequency: 0.00009  dbSNP: rs148948642
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866224 SCV001007290 likely benign Bardet-Biedl syndrome 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001107216 SCV001264356 uncertain significance Bardet-Biedl syndrome 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV001772161 SCV002001843 uncertain significance not provided 2020-01-28 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Dept Of Ophthalmology, Nagoya University RCV003889995 SCV004707625 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
PreventionGenetics, part of Exact Sciences RCV003938274 SCV004750077 likely benign BBS1-related condition 2021-12-28 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. RCV001107216 SCV001457748 uncertain significance Bardet-Biedl syndrome 1 2020-04-14 no assertion criteria provided clinical testing

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