ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer)

dbSNP: rs2141179932
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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 RCV001875192 SCV002144042 pathogenic Saldino-Mainzer syndrome 2022-11-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1373449). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val891*) 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).
Fulgent Genetics, Fulgent Genetics RCV002503448 SCV002813229 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-09-22 criteria provided, single submitter clinical testing

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