ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys)

gnomAD frequency: 0.00001  dbSNP: rs749207320
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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 RCV001322561 SCV001513437 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 353 of the IFT172 protein (p.Tyr353Cys). This variant is present in population databases (rs749207320, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with IFT172-related conditions. ClinVar contains an entry for this variant (Variation ID: 1022627). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt IFT172 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002476513 SCV002803805 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-05-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738246 SCV005354308 uncertain significance IFT172-related disorder 2024-05-31 no assertion criteria provided clinical testing The IFT172 c.1058A>G variant is predicted to result in the amino acid substitution p.Tyr353Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% 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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