ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.1067A>C (p.His356Pro)

gnomAD frequency: 0.00001  dbSNP: rs1064796598
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481881 SCV000573454 uncertain significance not provided 2017-02-16 criteria provided, single submitter clinical testing The H407P variant in the IFT122 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H407P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H407P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret H407P as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001219618 SCV001391566 uncertain significance Cranioectodermal dysplasia 1 2022-05-27 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 423724). This missense change has been observed in individual(s) with clinical features of short-rib thoracic dysplasia (Invitae). This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 407 of the IFT122 protein (p.His407Pro).

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