ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2158del (p.Arg720fs)

dbSNP: rs587777086
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204577 SCV001375790 pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-08-30 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 97032). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with short-rib thoracic dysplasia (PMID: 24140113). This sequence change creates a premature translational stop signal (p.Arg720Valfs*28) 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). This variant is present in population databases (no rsID available, gnomAD 0.0009%).
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001374876 SCV001572152 likely pathogenic Retinitis pigmentosa 71 2021-04-08 criteria provided, single submitter research The IFT172 c.2158del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002505012 SCV002803782 pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-02-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003137622 SCV003818310 pathogenic not provided 2021-12-06 criteria provided, single submitter clinical testing
OMIM RCV000083278 SCV000115358 pathogenic Short-rib thoracic dysplasia 10 without polydactyly 2013-11-07 no assertion criteria provided literature only

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