ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.1000-7C>T (rs200129563)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035692 SCV000059343 likely benign not specified 2015-06-25 criteria provided, single submitter clinical testing c.1000-7C>T in intron 11 of MYH7: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing. It has been identified in 2/10376 of African chromosomes and 2/11550 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs200129563).
Illumina Clinical Services Laboratory,Illumina RCV000319409 SCV000386269 likely benign Myosin storage myopathy 2019-10-22 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000265960 SCV000386271 likely benign Dilated cardiomyopathy 1S 2019-10-22 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000323421 SCV000386272 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001094072 SCV000386273 likely benign Familial hypertrophic cardiomyopathy 1 2019-10-22 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000288259 SCV000386274 likely benign Myopathy, distal, 1 2019-10-22 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000380268 SCV000557961 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727084 SCV000705507 uncertain significance not provided 2017-01-23 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769463 SCV000900857 uncertain significance Cardiomyopathy 2016-05-03 criteria provided, single submitter clinical testing
Color RCV000769463 SCV001360094 likely benign Cardiomyopathy 2019-01-06 criteria provided, single submitter clinical testing
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute RCV000380268 SCV001430820 uncertain significance Hypertrophic cardiomyopathy 2019-11-26 no assertion criteria provided research The MYH7 c.1000-7C>T variant has not been previously reported in literature, but has been seen identified in 2 HCM cases by another laboratory (ClinVar SCV000059343). The variant is present at an elevated frequency in the Genome Aggregation Database (http://gnomad.broadinstitute.org/). We identified this variant in a proband with HCM, no family history of disease or sudden cardiac death. The proband also carries 2 other variants (TNNT2 c.571-7G>A & TNNT2 Arg278His). In summary, based on rarity in the general population, and our limited familial data, we classify MYH7 c.1000-7C>T as a variant of "uncertain significance".

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