ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.986C>T (p.Thr329Met)

gnomAD frequency: 0.00003  dbSNP: rs568736482
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DBGen Ocular Genomics RCV001591793 SCV001815890 uncertain significance Retinitis pigmentosa 71 2021-06-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506690 SCV002815332 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002571156 SCV003254333 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-07-24 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 329 of the IFT172 protein (p.Thr329Met). This variant is present in population databases (rs568736482, gnomAD 0.06%). 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: 1213851). 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.
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003224574 SCV003920709 likely pathogenic Bardet-Biedl syndrome criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV004692703 SCV005187525 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004551934 SCV004745588 uncertain significance IFT172-related disorder 2023-12-05 no assertion criteria provided clinical testing The IFT172 c.986C>T variant is predicted to result in the amino acid substitution p.Thr329Met. To our knowledge, this variant has not been reported in the literature. This variant has been documented in 0.056% of alleles in individuals of South Asian descent in gnomAD, which is likely too common for an undocumented disease-causing 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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