ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.157A>G (p.Ile53Val)

gnomAD frequency: 0.00001  dbSNP: rs542335278
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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 RCV001229659 SCV001402112 uncertain significance Nephronophthisis 2022-08-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IQCB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 956786). 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: "Probably Damaging"; Align-GVGD: "Class C15"). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 53 of the IQCB1 protein (p.Ile53Val). This variant is present in population databases (rs542335278, gnomAD 0.003%). 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.
Fulgent Genetics, Fulgent Genetics RCV002491730 SCV002779637 uncertain significance Senior-Loken syndrome 5 2022-05-10 criteria provided, single submitter clinical testing

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