Submissions for variant NM_014714.4(IFT140):c.2569G>A (p.Gly857Ser)

gnomAD frequency: 0.00622  dbSNP: rs200876696

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000374806	SCV000395139	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000374806	SCV001098298	benign	Saldino-Mainzer syndrome	2024-01-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003391151	SCV004133720	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	IFT140: BS2
PreventionGenetics, part of Exact Sciences	RCV003922335	SCV004741880	benign	IFT140-related condition	2022-08-26	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).