ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.8T>C (p.Leu3Pro)

dbSNP: rs1964870972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001324414 SCV001515366 uncertain significance Bardet-Biedl syndrome 2022-03-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 3 of the BBS2 protein (p.Leu3Pro). This variant is not present in population databases (gnomAD no frequency). 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: 1024255). 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: "Deleterious"; PolyPhen-2: "Benign"; 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 RCV002486299 SCV002786594 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-03-05 criteria provided, single submitter clinical testing

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