Submissions for variant NM_002437.5(MPV17):c.444G>A (p.Leu148=)

gnomAD frequency: 0.00014  dbSNP: rs776964645

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000756345	SCV000530178	benign	not provided	2018-10-22	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756345	SCV000884125	benign	not provided	2018-05-30	criteria provided, single submitter	clinical testing
Invitae	RCV000756345	SCV001013013	benign	not provided	2024-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001142394	SCV001302829	benign	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	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.