ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4310A>G (p.Gln1437Arg)

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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 RCV005023694 SCV005656008 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-06-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004737716 SCV005363989 uncertain significance IFT172-related disorder 2024-05-01 no assertion criteria provided clinical testing The IFT172 c.4310A>G variant is predicted to result in the amino acid substitution p.Gln1437Arg. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African 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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