ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.445C>A (p.Leu149Ile)

gnomAD frequency: 0.00003  dbSNP: rs1001594561
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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 RCV001996599 SCV002218913 uncertain significance Nephronophthisis 2021-05-30 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with IQCB1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with isoleucine at codon 149 of the IQCB1 protein (p.Leu149Ile). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and isoleucine.
Fulgent Genetics, Fulgent Genetics RCV002479554 SCV002789045 uncertain significance Senior-Loken syndrome 5 2022-05-03 criteria provided, single submitter clinical testing

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