ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1973A>G (p.Tyr658Cys)

dbSNP: rs753656568
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001559169 SCV001781259 uncertain significance Bardet-Biedl syndrome 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001559170 SCV001781260 uncertain significance Retinitis pigmentosa 74 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506664 SCV002815729 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-03-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528515 SCV004105365 uncertain significance BBS2-related disorder 2024-09-11 no assertion criteria provided clinical testing The BBS2 c.1973A>G variant is predicted to result in the amino acid substitution p.Tyr658Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.013% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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