ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4671G>A (p.Lys1557=) (rs200601164)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617380 SCV000740178 likely benign Cardiovascular phenotype 2017-06-30 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, RCV000758033 SCV000564477 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.4671G>A (p.Lys1557=) variant in the MYH7 gene is 0.16% (34/15896) of South Asian 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).
Color RCV000758033 SCV000911655 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035925 SCV000059576 likely benign not specified 2011-03-24 criteria provided, single submitter clinical testing Lys1557Lys (4671G>A) in exon 34 of MYH7: This variant has not been previously reported in the literature nor identified by our laboratory. This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located near a splice junction.

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