ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2876A>G (p.His959Arg)

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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 RCV002637469 SCV003513783 uncertain significance Cranioectodermal dysplasia 1 2022-09-07 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. This variant has not been reported in the literature in individuals affected with IFT122-related conditions. This variant is present in population databases (rs368568826, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1010 of the IFT122 protein (p.His1010Arg).
Ambry Genetics RCV004070713 SCV004885913 uncertain significance Inborn genetic diseases 2023-10-02 criteria provided, single submitter clinical testing The c.3029A>G (p.H1010R) alteration is located in exon 24 (coding exon 24) of the IFT122 gene. This alteration results from a A to G substitution at nucleotide position 3029, causing the histidine (H) at amino acid position 1010 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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