ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.1250A>T (p.Tyr417Phe)

dbSNP: rs777697438
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001366951 SCV001563276 uncertain significance Nephronophthisis 2020-05-08 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"). This variant has not been reported in the literature in individuals with IQCB1-related conditions. This variant is present in population databases (rs777697438, ExAC 0.01%). This sequence change replaces tyrosine with phenylalanine at codon 417 of the IQCB1 protein (p.Tyr417Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine.
Fulgent Genetics, Fulgent Genetics RCV002493872 SCV002778206 uncertain significance Senior-Loken syndrome 5 2022-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV003264015 SCV003970443 uncertain significance Inborn genetic diseases 2023-05-04 criteria provided, single submitter clinical testing The c.1250A>T (p.Y417F) alteration is located in exon 12 (coding exon 10) of the IQCB1 gene. This alteration results from a A to T substitution at nucleotide position 1250, causing the tyrosine (Y) at amino acid position 417 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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