ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.853G>T (p.Val285Phe)

gnomAD frequency: 0.00001  dbSNP: rs1467393686
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001367886 SCV001564257 uncertain significance Nephronophthisis 2022-06-20 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. 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: 1058718). This variant has not been reported in the literature in individuals affected with IQCB1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.01%). This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 285 of the IQCB1 protein (p.Val285Phe).

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