ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.705G>C (p.Val235=) (rs2288599)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000245221 SCV000317487 benign Cardiovascular phenotype 2015-06-16 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769753 SCV000901175 benign Cardiomyopathy 2015-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000036916 SCV000166846 benign not specified 2013-04-29 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.
Illumina Clinical Services Laboratory,Illumina RCV000394771 SCV000355897 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297501 SCV000355898 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588560 SCV000697654 benign not provided 2016-08-02 criteria provided, single submitter clinical testing Variant summary: The ACTN2 c.705G>C (p.Val235Val) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool (MutationTaster) predicts a polymorphism outcome for this variant. 4/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 1636/120960 control chromosomes (including 73 homozygotes), predominantly observed in the East Asian subpopulation at a frequency of 0.1080705 (932/8624). This frequency is about 4323 times the estimated maximal expected allele frequency of a pathogenic ACTN2 variant (0.000025), suggesting this is a common benign polymorphism found primarily in the populations of East Asian origin. This polymorphism has also been reported in HCM patients without strong evidence of causality. In addition, multiple clinical diagnostic laboratories have classified this variant as benign. Taken together, this variant is classified as Benign.
Invitae RCV000471338 SCV000563574 benign Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 2017-07-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036916 SCV000060571 benign not specified 2009-07-24 criteria provided, single submitter clinical testing

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