ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) (rs397516028)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770323 SCV000901757 likely pathogenic Cardiomyopathy 2016-07-27 criteria provided, single submitter clinical testing
GeneDx RCV000494008 SCV000582015 uncertain significance not provided 2018-03-22 criteria provided, single submitter clinical testing The L1200P variant of uncertain significance in the MYBPC3 gene has been reported previously in one individual with LVNC who also harbors the c.3776delA variant on the opposite MYBPC3 allele (in trans) (Dellefave et al., 2009). In addition, the L1200P variant has been reported in one individual with HCM, however no segregation or general population data was reported (Marsiglia et al., 2013). Nevertheless, this variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L1200P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, this substitution occurs at a position that is conserved across species. Consequently, in silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge no studies have been performed to determine the functional effect of the L1200P variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035600 SCV000059251 likely pathogenic Primary dilated cardiomyopathy 2011-01-31 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000201471 SCV000256172 likely pathogenic Familial hypertrophic cardiomyopathy 4 criteria provided, single submitter clinical testing

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