ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.272G>A (p.Cys91Tyr)

gnomAD frequency: 0.00001  dbSNP: rs370233738
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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 RCV001890187 SCV002137607 uncertain significance Nephronophthisis 2021-11-08 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 disruptive. This variant has not been reported in the literature in individuals affected with IQCB1-related conditions. This variant is present in population databases (rs370233738, gnomAD 0.002%). This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 91 of the IQCB1 protein (p.Cys91Tyr).
Fulgent Genetics, Fulgent Genetics RCV002478215 SCV002776986 uncertain significance Senior-Loken syndrome 5 2022-01-20 criteria provided, single submitter clinical testing

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