ClinVar Miner

Submissions for variant NM_001080512.3(BICC1):c.2795A>G (p.Glu932Gly)

gnomAD frequency: 0.00001  dbSNP: rs387907124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002513222 SCV003441643 uncertain significance not provided 2022-08-15 criteria provided, single submitter clinical testing 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. Experimental studies have shown that this missense change affects BICC1 function (PMID: 21922595). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 31154). This missense change has been observed in individual(s) with renal abnormalities (PMID: 21922595). This variant is present in population databases (rs387907124, gnomAD 0.003%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 932 of the BICC1 protein (p.Glu932Gly).
OMIM RCV000024150 SCV000045441 risk factor Renal dysplasia, cystic, susceptibility to 2012-01-01 no assertion criteria provided literature only

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