ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3598G>T (p.Ala1200Ser)

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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 RCV005030017 SCV005656029 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-04-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552509 SCV004119817 uncertain significance IFT172-related disorder 2024-07-16 no assertion criteria provided clinical testing The IFT172 c.3598G>T variant is predicted to result in the amino acid substitution p.Ala1200Ser. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0039% 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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