ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.1240C>G (p.Leu414Val)

dbSNP: rs1948818458
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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 RCV001056552 SCV001221002 uncertain significance Nephronophthisis 2022-07-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 414 of the IQCB1 protein (p.Leu414Val). 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: 852019). 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"). 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 RCV005029630 SCV005657324 uncertain significance Senior-Loken syndrome 5 2024-01-31 criteria provided, single submitter clinical testing

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