ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.569A>C (p.His190Pro)

dbSNP: rs755408078
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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 RCV001999125 SCV002281355 uncertain significance Bardet-Biedl syndrome 2022-03-01 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 190 of the BBS5 protein (p.His190Pro). This variant is present in population databases (rs755408078, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of retinitis pigmentosa (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. 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 RCV002479708 SCV002777607 uncertain significance Bardet-Biedl syndrome 5 2021-09-11 criteria provided, single submitter clinical testing

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