Submissions for variant NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val)

gnomAD frequency: 0.05119  dbSNP: rs2235638

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000288955	SCV000395117	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.
GeneDx	RCV000117260	SCV000728721	benign	not specified	2017-10-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000288955	SCV000745464	benign	Saldino-Mainzer syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Mendelics	RCV000288955	SCV001139728	benign	Saldino-Mainzer syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Invitae	RCV000288955	SCV001732215	benign	Saldino-Mainzer syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888514	SCV004704962	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Genetic Services Laboratory, University of Chicago	RCV000117260	SCV000151434	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000288955	SCV000733492	benign	Saldino-Mainzer syndrome		no assertion criteria provided	clinical testing