ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.165C>T (p.Ala55=) (rs193922634)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029296 SCV000051942 likely benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036883 SCV000060538 likely benign not specified 2012-05-08 criteria provided, single submitter clinical testing Ala55Ala in exon 2 of ACTN2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp:// Ala55Ala in exon 2 of ACTN2 (allele frequenc y= 1/3738) **
GeneDx RCV000036883 SCV000511967 likely benign not specified 2015-10-21 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 RCV000868133 SCV001009431 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Invitae RCV001517905 SCV001726505 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2020-10-15 criteria provided, single submitter clinical testing

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