ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001219619 SCV001391567 uncertain significance Cranioectodermal dysplasia 1 2019-07-10 criteria provided, single submitter clinical testing This sequence change replaces alanine with proline at codon 1062 of the IFT122 protein (p.Ala1062Pro). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and proline. This variant is present in population databases (rs199622112, ExAC 0.02%). This variant has been observed in individuals affected with clinical features of short-rib thoracic dysplasia (PMID: 28370949, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
OMIM RCV001219619 SCV001441270 pathogenic Cranioectodermal dysplasia 1 2011-02-01 no assertion criteria provided literature only

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