Submissions for variant NM_014714.4(IFT140):c.2919C>T (p.Ala973=)

gnomAD frequency: 0.19119  dbSNP: rs2235640

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000315262	SCV000395126	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	RCV000117259	SCV000728820	benign	not specified	2018-01-02	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	RCV000315262	SCV000745465	benign	Saldino-Mainzer syndrome	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000315262	SCV001723355	benign	Saldino-Mainzer syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001544453	SCV001763499	benign	Retinitis pigmentosa 80	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000315262	SCV001763500	benign	Saldino-Mainzer syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888513	SCV004704975	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV004714445	SCV005297145	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000117259	SCV000151433	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	RCV000315262	SCV000733493	benign	Saldino-Mainzer syndrome		no assertion criteria provided	clinical testing