ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1555C>G (p.Leu519Val)

gnomAD frequency: 0.00001  dbSNP: rs374028829
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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 RCV001044859 SCV001208680 uncertain significance Bardet-Biedl syndrome 2022-05-27 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 519 of the BBS2 protein (p.Leu519Val). This variant is present in population databases (rs374028829, gnomAD 0.002%). 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: 842436). 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 RCV002505577 SCV002817049 uncertain significance Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2021-10-26 criteria provided, single submitter clinical testing

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