Submissions for variant NM_002451.4(MTAP):c.768T>G (p.Pro256=)

gnomAD frequency: 0.00511  dbSNP: rs62556500

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000377714	SCV000479215	benign	Diaphyseal medullary stenosis-bone malignancy 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000954122	SCV001100733	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000377714	SCV004016020	likely benign	Diaphyseal medullary stenosis-bone malignancy syndrome	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954122	SCV004157606	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	MTAP: BP4, BP7, BS2