ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.1576A>C (p.Ser526Arg)

gnomAD frequency: 0.00001  dbSNP: rs1390983530
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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 RCV001894267 SCV002122659 uncertain significance Nephronophthisis 2022-08-16 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1358616). 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 serine, which is neutral and polar, with arginine, which is basic and polar, at codon 526 of the IQCB1 protein (p.Ser526Arg).
Fulgent Genetics, Fulgent Genetics RCV002506896 SCV002816460 uncertain significance Senior-Loken syndrome 5 2022-04-07 criteria provided, single submitter clinical testing

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