ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.261C>T (p.Ile87=) (rs148560996)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619437 SCV000736978 likely benign Cardiovascular phenotype 2015-08-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758067 SCV000564506 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.261C>T (p.Ile87=) variant in the MYH7 gene is 0.18% (26/10406) of African chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
GeneDx RCV000035808 SCV000170545 benign not specified 2013-01-15 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 RCV000460433 SCV000557968 likely benign Hypertrophic cardiomyopathy 2017-12-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035808 SCV000059459 likely benign not specified 2016-06-16 criteria provided, single submitter clinical testing p.Ile87Ile in exon 4 of MYH7: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has also been identified in 0.2% (26/10406) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs148560996).

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