Submissions for variant NM_014714.4(IFT140):c.2253T>C (p.Pro751=)

gnomAD frequency: 0.30184  dbSNP: rs2076436

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000383469	SCV000395411	benign	Saldino-Mainzer syndrome	2018-01-12	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	RCV000117258	SCV000728553	benign	not specified	2017-09-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000383469	SCV001723356	benign	Saldino-Mainzer syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001544456	SCV001763503	benign	Retinitis pigmentosa 80	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000383469	SCV001763504	benign	Saldino-Mainzer syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888512	SCV004705000	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV004714444	SCV005297154	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117258	SCV000151432	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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117258	SCV001954755	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117258	SCV001968596	benign	not specified		no assertion criteria provided	clinical testing