ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)

gnomAD frequency: 0.00001  dbSNP: rs752749569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001240149 SCV001413073 uncertain significance Bardet-Biedl syndrome 2022-06-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 603 of the BBS2 protein (p.Tyr603Cys). This variant is present in population databases (rs752749569, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 965647). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV002491790 SCV002778520 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-08-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828946 SCV002089261 uncertain significance Bardet-Biedl syndrome 2 2020-12-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004733202 SCV005360913 uncertain significance BBS2-related disorder 2024-03-08 no assertion criteria provided clinical testing The BBS2 c.1808A>G variant is predicted to result in the amino acid substitution p.Tyr603Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0029% of alleles in individuals of Latino 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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