ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.877-6G>A (rs397516585)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000036922 SCV000532410 likely benign not specified 2017-10-11 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 RCV000542567 SCV000636978 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2018-01-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036922 SCV000060577 uncertain significance not specified 2017-01-20 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.877-6G>A variant in ACTN2 has been identified by our laboratory in 3 individuals with DCM. This variant has been identified in 0.2% (25/10362) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs397516585). Computational prediction tools and conservation analysis are limited or unavailable for this variant. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, while the clinical significance of the c.877-6G>A variant is uncertain, its frequency suggests that it is more likely to be benign.

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