Submissions for variant NM_014714.4(IFT140):c.1192G>A (p.Val398Ile)

gnomAD frequency: 0.08326  dbSNP: rs34762152

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000385144	SCV000395428	benign	Saldino-Mainzer syndrome	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000385144	SCV001723737	benign	Saldino-Mainzer syndrome	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001610410	SCV001835635	benign	not provided	2021-05-04	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888510	SCV004705025	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV001610410	SCV005297163	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117256	SCV000151430	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.