ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV003152928 SCV003841478 pathogenic Retinitis pigmentosa 80 2023-02-23 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). Stop-gained (nonsense) variant predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with IFT140-related disorder (PMID: 34890546). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
PreventionGenetics, part of Exact Sciences RCV004731512 SCV005336885 pathogenic IFT140-related disorder 2024-04-18 no assertion criteria provided clinical testing The IFT140 c.1246C>T variant is predicted to result in premature protein termination (p.Gln416*). This variant was reported in an individual with the autosomal dominant polycystic kidney-spectrum phenotype (Senum et al. 2022. PubMed ID: 34890546). This variant is reported in 0.020% of alleles in individuals of South Asian descent in gnomAD. Nonsense variants in IFT140 are expected to be pathogenic. This variant is interpreted as pathogenic for both autosomal dominant and autosomal recessive IFT140-related disorders.

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