Submissions for variant NM_020297.4(ABCC9):c.817-7del

dbSNP: rs193922684

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000038626	SCV000051929	benign	not specified	2019-08-13	criteria provided, single submitter	clinical testing	Variant summary: ABCC9 c.817-7delT alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.017 in 132398 control chromosomes in the gnomAD database, including 9 homozygotes. The observed variant frequency is approximately 660 fold of the estimated maximal expected allele frequency for a pathogenic variant in ABCC9 causing Cardiomyopathy phenotype (2.5e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.817-7delT in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions (evaluation after 2014) cite the variant as benign. Based on the evidence outlined above, the variant was classified as benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000038626	SCV000062304	likely benign	not specified	2012-04-24	criteria provided, single submitter	clinical testing	817-7delT in intron 5 of ABCC9:
Labcorp Genetics (formerly Invitae), Labcorp	RCV000204077	SCV000262491	benign	Dilated cardiomyopathy 1O	2025-02-04	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000029283	SCV000900774	benign	Cardiomyopathy	2017-07-26	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001529420	SCV001158962	benign	not provided	2023-11-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001529420	SCV001765067	likely benign	not provided	2019-09-09	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529420	SCV001742851	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000038626	SCV001924823	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000038626	SCV001928173	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000038626	SCV001965451	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000038626	SCV002036492	benign	not specified		no assertion criteria provided	clinical testing