ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.590C>T (p.Pro197Leu)

gnomAD frequency: 0.00014  dbSNP: rs368373262
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001068624 SCV001233747 likely benign Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482120 SCV002776698 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-05-17 criteria provided, single submitter clinical testing
GeneDx RCV004590081 SCV005080177 uncertain significance not provided 2023-12-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004547974 SCV004756608 uncertain significance IFT172-related disorder 2024-08-26 no assertion criteria provided clinical testing The IFT172 c.590C>T variant is predicted to result in the amino acid substitution p.Pro197Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.052% of alleles in individuals of African descent in gnomAD, which may be too common to be an undocumented pathogenic variant. Although we suspect that this variant may be benign, 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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