ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2383G>A (p.Asp795Asn)

gnomAD frequency: 0.00004  dbSNP: rs76007598
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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 RCV001062757 SCV001227576 uncertain significance Cranioectodermal dysplasia 1 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 846 of the IFT122 protein (p.Asp846Asn). This variant is present in population databases (rs76007598, gnomAD 0.02%). 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: 857142). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt IFT122 protein function with a negative 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 RCV001062757 SCV002789012 uncertain significance Cranioectodermal dysplasia 1 2022-04-23 criteria provided, single submitter clinical testing

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