Submissions for variant NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)

gnomAD frequency: 0.00170  dbSNP: rs61733140

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178738	SCV000230879	uncertain significance	not provided	2014-08-25	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000178738	SCV001040009	likely benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001151100	SCV001312203	benign	Abetalipoproteinaemia	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx	RCV000178738	SCV005078244	likely benign	not provided	2019-07-08	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Natera, Inc.	RCV001151100	SCV001461948	likely benign	Abetalipoproteinaemia	2020-04-21	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937616	SCV004754710	likely benign	MTTP-related disorder	2019-08-02	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).