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

dbSNP: rs587776909

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000024364	SCV001383778	pathogenic	Saldino-Mainzer syndrome	2024-03-16	criteria provided, single submitter	clinical testing	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. Loss-of-function variants in IFT140 are known to be pathogenic (PMID: 22503633, 23418020, 24009529, 26216056). This variant is present in population databases (rs775537867, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with Mainzer-Saldino (PMID: 22503633). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 31684). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics	RCV005007894	SCV005642706	pathogenic	Saldino-Mainzer syndrome; Retinitis pigmentosa 80	2024-05-23	criteria provided, single submitter	clinical testing
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