ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.3769C>T (p.Leu1257=)

gnomAD frequency: 0.00001  dbSNP: rs373382907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773937 SCV001992172 uncertain significance not provided 2021-11-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001882854 SCV002120109 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-11-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552000 SCV004719195 likely benign IFT172-related disorder 2022-01-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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