ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4934T>C (p.Val1645Ala)

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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 RCV005030011 SCV005655984 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-02-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004548659 SCV004105387 uncertain significance IFT172-related disorder 2024-05-08 no assertion criteria provided clinical testing The IFT172 c.4934T>C variant is predicted to result in the amino acid substitution p.Val1645Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) 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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