ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3916dup (p.Ala1306fs)

dbSNP: rs587776909
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000024364 SCV001383778 pathogenic Saldino-Mainzer syndrome 2019-09-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). This variant has been observed to segregate with Mainzer-Saldino in a family (PMID: 22503633). This variant is present in population databases (rs775537867, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Ala1306Glyfs*56) in the IFT140 gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000024364 SCV000045657 pathogenic Saldino-Mainzer syndrome 2012-05-04 no assertion criteria provided literature only
Dan Cohn Lab, University Of California Los Angeles RCV000515983 SCV000612041 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515983 SCV001479394 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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