ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002736210 SCV003011484 pathogenic Saldino-Mainzer syndrome 2022-03-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This sequence change creates a premature translational stop signal (p.His894Glnfs*58) in the IFT140 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). This variant is present in population databases (rs776988446, gnomAD 0.001%). ClinVar contains an entry for this variant (Variation ID: 318047). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005019360 SCV005642777 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-03-05 criteria provided, single submitter clinical testing

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