Submissions for variant NM_014236.4(GNPAT):c.555A>T (p.Ile185=)

gnomAD frequency: 0.00339  dbSNP: rs34613633

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194948	SCV000247489	uncertain significance	not specified	2014-10-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000999765	SCV000355434	likely benign	Rhizomelic chondrodysplasia punctata type 2	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000999765	SCV000885528	benign	Rhizomelic chondrodysplasia punctata type 2	2023-11-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000757338	SCV001115113	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000757338	SCV001913473	benign	not provided	2018-09-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000757338	SCV004126098	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	GNPAT: BP4, BP7, BS2