ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3981del (p.Arg1328fs)

dbSNP: rs1431530916
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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 RCV001220816 SCV001392828 pathogenic Saldino-Mainzer syndrome 2023-07-10 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.007%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 949370). 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.Arg1328Glyfs*12) 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 RCV005012630 SCV005642701 likely pathogenic Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-06-17 criteria provided, single submitter clinical testing

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