ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2765dup (p.Tyr922Ter) (rs750338419)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000810508 SCV000950714 pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2018-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr922*) in the IFT172 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs750338419, ExAC 0.001%). This variant has been observed in an individual with short-rib polydactyly syndromes type 2 (SRPS type 2), who was also found to have other variants in different genes (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446697). Loss-of-function variants in IFT172 are known to be pathogenic (PMID: 24140113). For these reasons, this variant has been classified as Pathogenic.
Dan Cohn Lab,University Of California Los Angeles RCV000515844 SCV000612134 likely pathogenic Short rib-polydactyly syndrome, Majewski type 2017-06-01 no assertion criteria provided research

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