ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.1519A>G (p.Met507Val) (rs144553482)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150149 SCV000197027 likely benign not specified 2013-12-24 criteria provided, single submitter clinical testing Met507Val in exon 14 of ACTN2: This variant is not expected to have clinical sig nificance because it has been identified in 0.25% (11/4406) of African American chromosomes by the NHLBI Exome Sequencing Project ( EVS/; dbSNP rs144553482) and because there is a lack of conservation across spec ies. Of note, several turtle and fish species have a valine (Val) at this positi on despite high nearby amino acid conservation. In addition, computational analy ses (PolyPhen2, SIFT, AlignGVGD) do not suggest a high likelihood of impact to t he protein. Met507Val in exon 14 of ACTN2 (rs144553482; allele frequency = 0.2 5%, 11/4406) **
Invitae RCV000230715 SCV000285861 likely benign not provided 2019-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000150149 SCV000525232 likely benign not specified 2017-08-03 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.
Ambry Genetics RCV000618494 SCV000740090 likely benign Cardiovascular phenotype 2018-03-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification

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