ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.148A>T (p.Arg50Ter)

dbSNP: rs1668686361
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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 RCV001207600 SCV001378962 pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-03-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 938394). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 creates a premature translational stop signal (p.Arg50*) in the IFT172 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT172 are known to be pathogenic (PMID: 24140113).

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