ClinVar Miner

Submissions for variant NM_001023570.4(IQCB1):c.1003A>G (p.Met335Val)

gnomAD frequency: 0.00002  dbSNP: rs143553764
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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 RCV002014165 SCV002301049 uncertain significance Nephronophthisis 2022-01-16 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 335 of the IQCB1 protein (p.Met335Val). This variant is present in population databases (rs143553764, gnomAD 0.008%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002486690 SCV002787443 uncertain significance Senior-Loken syndrome 5 2024-05-10 criteria provided, single submitter clinical testing

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