ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2677G>T (p.Glu893Ter)

dbSNP: rs372746686
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001381146 SCV001579399 pathogenic Saldino-Mainzer syndrome 2022-08-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IFT140-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1069327). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Glu893*) 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).

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