ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter)

gnomAD frequency: 0.00004  dbSNP: rs1257804746
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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 RCV001975158 SCV002247384 pathogenic Saldino-Mainzer syndrome 2024-12-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg505*) 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 0.01%). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. ClinVar contains an entry for this variant (Variation ID: 1459143). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV003312029 SCV004010416 pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing IFT140: PVS1, PM2
Fulgent Genetics, Fulgent Genetics RCV005008310 SCV005638659 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-06-11 criteria provided, single submitter clinical testing

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