ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly) (rs727504335)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548289 SCV000623553 uncertain significance Hypertrophic cardiomyopathy 2018-09-11 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide and inserts 4 nucleotides in exon 2 of the MYBPC3 mRNA (c.239delinsGAGG). This leads to the deletion of one amino acid and insertion of 2 amino acid residues in the MYBPC3 protein (p.Ala80delinsGlyGly) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) . This variant has been reported in individuals affected with dilated cardiomyopathy (PMID: 22464770, 27532257). ClinVar contains an entry for this variant (Variation ID: 177816). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the altered amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000618834 SCV000740259 uncertain significance Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154449 SCV000204118 uncertain significance not specified 2013-01-23 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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