ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1609G>A (p.Val537Met)

gnomAD frequency: 0.00001  dbSNP: rs868020223
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001060166 SCV001224838 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 537 of the IFT172 protein (p.Val537Met). This variant is present in population databases (no rsID available, gnomAD 0.007%). This missense change has been observed in individual(s) with clinical features of IFT172-related conditions (PMID: 31054281). ClinVar contains an entry for this variant (Variation ID: 855004). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Genetic Services Laboratory, University of Chicago RCV001819785 SCV002068518 uncertain significance not specified 2019-01-10 criteria provided, single submitter clinical testing
GeneDx RCV002462301 SCV002757745 uncertain significance not provided 2022-05-23 criteria provided, single submitter clinical testing Reported in a patient with retinitis pigmentosa; however, familial segregation information and additional clinical information was not provided (Gao et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31054281)
Fulgent Genetics, Fulgent Genetics RCV002482048 SCV002775385 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2021-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738144 SCV005347236 uncertain significance IFT172-related disorder 2024-05-02 no assertion criteria provided clinical testing The IFT172 c.1609G>A variant is predicted to result in the amino acid substitution p.Val537Met. This variant has been reported in a large cohort study of individuals with retinitis pigmentosa (Table S2 in Gao et al. 2019. PubMed ID: 31054281). This variant is reported in 0.0065% of alleles in individuals of South 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.