ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.227T>A (p.Val76Glu)

dbSNP: rs2134771309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376387 SCV001573507 uncertain significance Bardet-Biedl syndrome 1 2021-04-08 criteria provided, single submitter research The BBS1 c.227T>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2. Based on this evidence we have classified this variant as Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001871987 SCV002265687 uncertain significance Bardet-Biedl syndrome 2022-04-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1065728). 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"). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. This sequence change replaces valine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 76 of the BBS1 protein (p.Val76Glu). This variant is not present in population databases (gnomAD no frequency). 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.

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