ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.145C>T (p.Arg49Trp)

gnomAD frequency: 0.00009  dbSNP: rs141043554
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064556 SCV001229466 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2022-07-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 49 of the IFT172 protein (p.Arg49Trp). This variant is present in population databases (rs141043554, gnomAD 0.01%). 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: 858644). 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.
GeneDx RCV001772290 SCV001994197 uncertain significance not provided 2022-06-06 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); 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
Fulgent Genetics, Fulgent Genetics RCV002489686 SCV002801392 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2022-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030543 SCV004886208 uncertain significance Inborn genetic diseases 2023-01-23 criteria provided, single submitter clinical testing The c.145C>T (p.R49W) alteration is located in exon 2 (coding exon 2) of the IFT172 gene. This alteration results from a C to T substitution at nucleotide position 145, causing the arginine (R) at amino acid position 49 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004547972 SCV004114348 uncertain significance IFT172-related disorder 2024-09-19 no assertion criteria provided clinical testing The IFT172 c.145C>T variant is predicted to result in the amino acid substitution p.Arg49Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of European (Non-Finnish) 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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