ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) (rs147484763)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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://; dbSNP rs147484763).
Invitae RCV001087948 SCV000289968 benign ANKRD1-related dilated cardiomyopathy 2020-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000247330 SCV000318970 likely benign Cardiovascular phenotype 2016-02-25 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Synonymous alterations with insufficient evidence to classify as benign
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.
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

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