Submissions for variant NM_001386140.1(MTTP):c.660T>C (p.Tyr220=)

gnomAD frequency: 0.02353  dbSNP: rs113557405

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000379788	SCV000446709	benign	Abetalipoproteinaemia	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001175009	SCV001338508	benign	not specified	2020-04-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510428	SCV001717460	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000379788	SCV001737244	benign	Abetalipoproteinaemia	2021-05-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001510428	SCV001773683	likely benign	not provided	2021-11-10	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001510428	SCV005260237	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000379788	SCV002082420	benign	Abetalipoproteinaemia	2019-11-25	no assertion criteria provided	clinical testing