Submissions for variant NM_004278.4(PIGL):c.424C>A (p.Leu142Met)

gnomAD frequency: 0.00486  dbSNP: rs115958467

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147259	SCV000194630	uncertain significance	CHIME syndrome	2013-02-08	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224110	SCV000281577	likely benign	not provided	2016-05-06	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Eurofins Ntd Llc (ga)	RCV000396564	SCV000335066	likely benign	not specified	2015-09-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000294974	SCV000400865	uncertain significance	Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome	2016-06-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224110	SCV000575091	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	PIGL: BP4, BS2
Invitae	RCV000224110	SCV001012687	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000147259	SCV001286649	likely benign	CHIME 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.