ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.1331G>A (p.Arg444His)

gnomAD frequency: 0.00008  dbSNP: rs751965696
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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 RCV001051730 SCV001215900 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2023-10-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 444 of the IFT172 protein (p.Arg444His). This variant is present in population databases (rs751965696, 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: 848052). 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.
GeneDx RCV002275190 SCV002562360 uncertain significance not provided 2022-08-10 criteria provided, single submitter clinical testing Not observed at 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
Ambry Genetics RCV004031612 SCV004886207 uncertain significance Inborn genetic diseases 2022-08-16 criteria provided, single submitter clinical testing The c.1331G>A (p.R444H) alteration is located in exon 14 (coding exon 14) of the IFT172 gene. This alteration results from a G to A substitution at nucleotide position 1331, causing the arginine (R) at amino acid position 444 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021376 SCV005651469 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553589 SCV004112663 uncertain significance IFT172-related disorder 2023-12-24 no assertion criteria provided clinical testing The IFT172 c.1331G>A variant is predicted to result in the amino acid substitution p.Arg444His. 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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