ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.88C>A (p.Pro30Thr)

gnomAD frequency: 0.00004  dbSNP: rs368510687
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894400 SCV002125658 uncertain significance Bardet-Biedl syndrome 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 30 of the BBS1 protein (p.Pro30Thr). This variant is present in population databases (rs368510687, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1359126). 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: "Probably 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 RCV002478136 SCV002780628 uncertain significance Bardet-Biedl syndrome 1 2022-03-17 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815673 SCV005069232 uncertain significance Retinal dystrophy 2021-01-01 no assertion criteria provided clinical testing

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