ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)

gnomAD frequency: 0.00001  dbSNP: rs999731005
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001380017 SCV001577942 pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1068458). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Glu1265*) 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).
Fulgent Genetics, Fulgent Genetics RCV002476718 SCV001752572 likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-02-27 criteria provided, single submitter clinical testing

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