Submissions for variant NM_020297.4(ABCC9):c.1677G>A (p.Ala559=)

gnomAD frequency: 0.00193  dbSNP: rs76458291

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038587	SCV000062265	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing	p.Ala559Ala in exon 12 of ABCC9: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 1.4% (91/6612) of Finnish chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org/; dbSNP rs76458291).
GeneDx	RCV000038587	SCV000166790	benign	not specified	2014-03-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000474261	SCV000561920	benign	Dilated cardiomyopathy 1O	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620779	SCV000735934	benign	Cardiovascular phenotype	2017-07-22	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770406	SCV000901848	benign	Cardiomyopathy	2016-01-11	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001528496	SCV001159741	benign	not provided	2020-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001109762	SCV001267129	benign	Hypertrichotic osteochondrodysplasia Cantu type	2017-04-27	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.
Illumina Laboratory Services, Illumina	RCV000474261	SCV001267130	benign	Dilated cardiomyopathy 1O	2017-04-27	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038587	SCV002598821	benign	not specified	2022-09-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001528496	SCV004134541	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	ABCC9: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004534812	SCV004745369	benign	ABCC9-related disorder	2019-10-09	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528496	SCV001740329	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038587	SCV001919216	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001528496	SCV001964075	likely benign	not provided		no assertion criteria provided	clinical testing