ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3127C>T (p.Arg1043Cys)

dbSNP: rs555281580
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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 RCV001296884 SCV001485861 uncertain significance Cranioectodermal dysplasia 1 2024-02-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1094 of the IFT122 protein (p.Arg1094Cys). This variant is present in population databases (rs555281580, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. ClinVar contains an entry for this variant (Variation ID: 1000720). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IFT122 protein function with a positive predictive value of 80%. 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 RCV001296884 SCV002776136 uncertain significance Cranioectodermal dysplasia 1 2024-04-14 criteria provided, single submitter clinical testing

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