ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1698C>T (p.Pro566=) (rs148961019)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428299 SCV000526583 likely benign not specified 2016-04-05 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 RCV000465797 SCV000563576 likely benign not provided 2016-09-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000428299 SCV000710889 likely benign not specified 2017-11-22 criteria provided, single submitter clinical testing p.Pro566Pro in Exon 15 of ACTN2: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 7/277162 chromoso mes by the Genome Aggregation Database with the highest frequency of 4/24018 in African chromosomes (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs148961019 ).

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