ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) (rs142034311)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618217 SCV000735085 benign Cardiovascular phenotype 2015-07-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769444 SCV000900837 benign Cardiomyopathy 2016-03-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000035931 SCV000229591 likely benign not specified 2014-08-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390599 SCV000385930 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302758 SCV000385931 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227655 SCV000385932 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000272275 SCV000385933 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000327396 SCV000385934 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363143 SCV000385935 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588143 SCV000696354 likely benign not provided 2017-05-31 criteria provided, single submitter clinical testing Variant summary: The MYH7 c.4806C>T (p.Asp1602Asp) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may abrogate the binding sites for splicing enhancers. However, these predictions have yet to be confirmed by functional studies. The variant of interest has been found in a large, broad control population, ExAC in 941/120694 control chromosomes at a frequency of 0.0077966, which is approximately 8 times the estimated maximal expected allele frequency of a pathogenic MYH7 variant (0.0010005), suggesting this variant is likely a benign polymorphism. This variant has been found in genomAD in 286/274438 control chromosomes at a frequency of 0.001042 which is approximately equal to the maximal expected allele frequency of a pathogenic MYH7 variant. These data need to be taken with caution since this variant failed quality filters in both databases. Multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. The variant of interest has been reported in at least one individual with DCM in one study, but was also found in controls (Karkkainen_EJHF_2004). Taken together, this variant is classified as likely benign, unitl more evidence becomes available.
Invitae RCV000227655 SCV000284280 likely benign Hypertrophic cardiomyopathy 2018-01-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035931 SCV000059582 benign not specified 2015-04-08 criteria provided, single submitter clinical testing p.Asp1602Asp in exon 34 of MYH7: This variant is not expected to have clinical s ignificance because it has been identified in 5.9% (584/9952) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs142034311).
PreventionGenetics RCV000035931 SCV000303244 likely benign not specified criteria provided, single submitter clinical testing

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