ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.917A>C (p.Lys306Thr)

dbSNP: rs1471637477
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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 RCV002035692 SCV002279046 uncertain significance Nephronophthisis 2021-08-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IQCB1-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with threonine at codon 306 of the IQCB1 protein (p.Lys306Thr). The lysine residue is highly conserved and there is a moderate physicochemical difference between lysine and threonine.

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