ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3217G>A (p.Val1073Ile)

gnomAD frequency: 0.00005  dbSNP: rs138028750
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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 RCV001895854 SCV002154659 uncertain significance Cranioectodermal dysplasia 1 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1124 of the IFT122 protein (p.Val1124Ile). This variant is present in population databases (rs138028750, gnomAD 0.01%). 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: 1384252). 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 not expected to disrupt IFT122 protein function. 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 RCV001895854 SCV002783889 uncertain significance Cranioectodermal dysplasia 1 2022-02-21 criteria provided, single submitter clinical testing

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