ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4811C>T (p.Thr1604Ile)

gnomAD frequency: 0.00004  dbSNP: rs115716101
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001046263 SCV001210159 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-11-05 criteria provided, single submitter clinical testing
GeneDx RCV001759968 SCV001999366 uncertain significance not provided 2019-10-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002505580 SCV002815413 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738130 SCV005345987 uncertain significance IFT172-related disorder 2023-10-31 no assertion criteria provided clinical testing The IFT172 c.4811C>T variant is predicted to result in the amino acid substitution p.Thr1604Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-27668800-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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