ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) (rs1555486629)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000515580 SCV001578010 pathogenic Saldino-Mainzer syndrome 2020-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg760*) in the IFT140 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of short-rib thoracic dysplasia (PMID: 28288023). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 446316). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000515580 SCV000611646 pathogenic Saldino-Mainzer syndrome 2017-11-22 no assertion criteria provided literature only

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