ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2155C>T (p.His719Tyr)

gnomAD frequency: 0.00001  dbSNP: rs144645349
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001862653 SCV002290610 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-10-13 criteria provided, single submitter clinical testing 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. 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 not expected to disrupt IFT172 protein function. ClinVar contains an entry for this variant (Variation ID: 869114). This missense change has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 32451492). This variant is present in population databases (rs144645349, gnomAD 0.01%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 719 of the IFT172 protein (p.His719Tyr).
Fulgent Genetics, Fulgent Genetics RCV002482157 SCV002779310 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-04-05 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890231 SCV004705263 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Department of Neurology, Kindai University RCV001257322 SCV001243222 pathogenic Bardet-Biedl syndrome 22 2020-03-24 no assertion criteria provided case-control
OMIM RCV002508153 SCV001769495 pathogenic Bardet-Biedl syndrome 20 2021-08-04 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004738157 SCV005351750 uncertain significance IFT172-related disorder 2024-03-25 no assertion criteria provided clinical testing The IFT172 c.2155C>T variant is predicted to result in the amino acid substitution p.His719Tyr. This variant was reported in the compound heterozygous state in an individual with Bardet-Biedl syndrome (Hirano et al. 2020. PubMed ID: 32451492). This variant is reported in 0.016% of alleles in individuals of East Asian 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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