ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)

dbSNP: rs1471379682
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001221113 SCV001393137 pathogenic Saldino-Mainzer syndrome 2024-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp80*) 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 (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (internal data). ClinVar contains an entry for this variant (Variation ID: 949617). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002497752 SCV002813921 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-05-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004753238 SCV005357126 pathogenic IFT140-related disorder 2024-08-30 no assertion criteria provided clinical testing The IFT140 c.240G>A variant is predicted to result in premature protein termination (p.Trp80*). To our knowledge, this variant has not been reported in a clinically affected patient yet in the literature. This variant is reported in 0.0065% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in IFT140 are expected to be pathogenic. This variant is interpreted as pathogenic.

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