ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.1000A>C (p.Lys334Gln)

gnomAD frequency: 0.00010  dbSNP: rs532987681
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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 RCV002001416 SCV002274473 uncertain significance Nephronophthisis 2022-06-09 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 334 of the IQCB1 protein (p.Lys334Gln). This variant is present in population databases (rs532987681, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with IQCB1-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 RCV002479687 SCV002779065 uncertain significance Senior-Loken syndrome 5 2022-04-24 criteria provided, single submitter clinical testing

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