ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1330C>G (p.Arg444Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005023673 SCV005651471 uncertain significance 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
PreventionGenetics, part of Exact Sciences RCV004736908 SCV005348567 uncertain significance IFT172-related disorder 2024-08-26 no assertion criteria provided clinical testing The IFT172 c.1330C>G variant is predicted to result in the amino acid substitution p.Arg444Gly. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. 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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