Submissions for variant NM_001371904.1(APOA5):c.944C>T (p.Ala315Val)

gnomAD frequency: 0.00051  dbSNP: rs143292359

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589779	SCV000699787	benign	not provided	2017-07-17	criteria provided, single submitter	clinical testing	Variant summary: The APOA5 c.944C>T (p.Ala315Val) variant involves the alteration of a non-conserved nucleotide. 3/3 in silico tools predict a damaging outcome for this variant (Mutation Taster and SNPs&GO not captured due to low reliability index). This variant was found in 97/127594 control chromosomes including ExAC at a frequency of 0.0007602, which is approximately 11 times the estimated maximal expected allele frequency of a pathogenic APOA5 variant (0.0000667), suggesting this variant is likely a benign polymorphism. This variant did not cosegregate with hyperlipidemia in one family (Pennacchio_2002), while in another case-control study it was found that this variant does not play any dominant/important role in the genetic determination of plasma TG levels albeit its frequency was higher in cases than in controls (Hubacek_2006). Taken together, this variant is classified as benign.
Invitae	RCV000589779	SCV001614747	likely benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000589779	SCV001751464	likely benign	not provided	2020-06-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31619059, 12417524, 18601597, 25487149, 17717288)
Ambry Genetics	RCV002448828	SCV002683189	likely benign	Cardiovascular phenotype	2022-04-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Clinical Genetics, Academic Medical Center	RCV000589779	SCV001920282	pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000589779	SCV001969232	likely pathogenic	not provided		no assertion criteria provided	clinical testing