ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.196C>G (p.Arg66Gly) (rs397517249)

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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 RCV000038845 SCV000062523 benign not specified 2019-01-22 criteria provided, single submitter clinical testing The p.arg66Gly variant in ANKRD1 is classified as benign because it has been identified in 0.1% (307/30616) of South Asian chromosomes and 5 homozygotes by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1.
GeneDx RCV000038845 SCV000518123 benign not specified 2016-03-25 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 RCV001087075 SCV000658933 benign ANKRD1-related dilated cardiomyopathy 2020-10-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588271 SCV000699374 likely benign not provided 2017-08-01 criteria provided, single submitter clinical testing Variant summary: The ANKRD1 c.196C>G (p.Arg66Gly) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 173/121398 control chromosomes (3 homozygotes) from ExAC, predominantly observed in the South Asian subpopulation at a frequency of 0.010296 (170/16512). This frequency is about 300 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. One clinical diagnostic laboratory has recently classified as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications. It has not been found in cohorts of HCM and DCM patients tested at OMGL and LMM centers (Cardio db). Taken together, this variant is currently classified as likely benign.
Ambry Genetics RCV000621700 SCV000739940 benign Cardiovascular phenotype 2019-03-18 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
Illumina Clinical Services Laboratory,Illumina RCV001105938 SCV001262962 likely benign Primary dilated cardiomyopathy 2018-03-06 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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