ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.291A>C (p.Glu97Asp)

gnomAD frequency: 0.00025  dbSNP: rs189236939
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001374350 SCV001571175 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-08-28 criteria provided, single submitter clinical testing
GeneDx RCV002254962 SCV002526146 uncertain significance not provided 2022-05-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004550094 SCV004736693 likely benign IFT172-related disorder 2021-08-13 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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