ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.481C>A (p.Pro161Thr)

dbSNP: rs148462329
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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 RCV002038579 SCV002308460 likely benign Saldino-Mainzer syndrome 2025-01-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507824 SCV002814216 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-06-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694153 SCV005194105 uncertain significance not provided criteria provided, single submitter not provided
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816938 SCV005068730 uncertain significance Retinal dystrophy 2022-01-01 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004753478 SCV005347498 uncertain significance IFT140-related disorder 2024-09-16 no assertion criteria provided clinical testing The IFT140 c.481C>A variant is predicted to result in the amino acid substitution p.Pro161Thr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.025% of alleles in individuals of East Asian descent in gnomAD. 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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