ClinVar Miner

Submissions for variant NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) (rs397517251)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038853 SCV000062531 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing p.Ser187Phe in exon 6 of ANKRD1: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (79/16430) of South Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs397517251).
Invitae RCV000228146 SCV000289973 benign ANKRD1-related dilated cardiomyopathy 2020-10-20 criteria provided, single submitter clinical testing
GeneDx RCV000038853 SCV000530964 likely benign not specified 2016-08-12 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.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770304 SCV000901737 likely benign Cardiomyopathy 2015-08-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104799 SCV001261692 uncertain significance Primary dilated cardiomyopathy 2018-01-13 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.

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