Submissions for variant NM_014391.3(ANKRD1):c.150C>G (p.Ala50=)

gnomAD frequency: 0.00006  dbSNP: rs147484763

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154681	SCV000204359	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Ala50Ala in exon 2 of ANKRD1: 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 1/3738 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs147484763).
Invitae	RCV001087948	SCV000289968	benign	ANKRD1-related dilated cardiomyopathy	2024-01-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000247330	SCV000318970	likely benign	Cardiovascular phenotype	2016-02-25	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.
GeneDx	RCV000154681	SCV000512050	benign	not specified	2016-05-04	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589749	SCV000699372	benign	not provided	2017-08-02	criteria provided, single submitter	clinical testing	Variant summary: The ANKRD1 c.150C>G (p.Ala50Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant creates binding site for SF2/ASF and SC35. However, these predictions have yet to be confirmed by functional studies. This variant was found in 206/121400 control chromosomes (5 homozygotes) from ExAC, predominantly observed in the South Asian subpopulation at a frequency of 0.012112 (200/16512). This frequency is about 352 times the estimated maximal expected allele frequency of a pathogenic ANKRD1 variant (0.0000344), suggesting this is likely a benign polymorphism found primarily in the populations of South Asian origin. In addition, multiple clinical diagnostic laboratories in ClinVar have classified this variant as likely benign/benign. To our knowledge, this variant has not been reported in affected individuals via publications. Taken together, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000589749	SCV004127065	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	ANKRD1: BP4, BP7, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000603713	SCV000732974	likely benign	Congenital total pulmonary venous return anomaly		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154681	SCV001917180	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000154681	SCV001958817	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000589749	SCV001967089	likely benign	not provided		no assertion criteria provided	clinical testing