Submissions for variant NM_020297.4(ABCC9):c.372T>C (p.Asn124=)

gnomAD frequency: 0.00051  dbSNP: rs377384557

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038612	SCV000062290	likely benign	not specified	2013-05-08	criteria provided, single submitter	clinical testing	Asn124Asn in exon 3 of ABCC9: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (9/8600) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS). Asn124Asn in exon 3 of ABCC9 (all ele frequency = 0.1%, 9/8600) **
Illumina Laboratory Services, Illumina	RCV000309406	SCV000377567	uncertain significance	Hypertrichotic osteochondrodysplasia Cantu type	2018-01-12	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV000468437	SCV000377568	uncertain significance	Dilated cardiomyopathy 1O	2018-01-12	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV001701579	SCV000516785	likely benign	not provided	2021-10-28	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24503780)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000468437	SCV000561925	benign	Dilated cardiomyopathy 1O	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621321	SCV000735837	likely benign	Cardiovascular phenotype	2017-04-07	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769385	SCV000900777	benign	Cardiomyopathy	2019-12-18	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038612	SCV003922977	benign	not specified	2023-03-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001701579	SCV004134544	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	ABCC9: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701579	SCV001931287	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000038612	SCV001952883	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701579	SCV001973078	likely benign	not provided		no assertion criteria provided	clinical testing