ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3871G>A (p.Glu1291Lys)

dbSNP: rs1665880862
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001300541 SCV001489685 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-06-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1003919). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1291 of the IFT172 protein (p.Glu1291Lys). 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"). 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.

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