ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3465G>T (p.Glu1155Asp)

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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 RCV005023668 SCV005656037 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2023-12-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004736759 SCV005342114 uncertain significance IFT172-related disorder 2024-03-15 no assertion criteria provided clinical testing The IFT172 c.3465G>T variant is predicted to result in the amino acid substitution p.Glu1155Asp. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), 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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