ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2348G>A (p.Arg783His) (rs397516142)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000157359 SCV000207097 likely pathogenic Cardiomyopathy 2015-05-12 criteria provided, single submitter clinical testing
GeneDx RCV000444026 SCV000513803 likely pathogenic not provided 2017-01-24 criteria provided, single submitter clinical testing The R783H likely pathogenic variant in the MYH7 gene has been previously reported in at least one individual referred for HCM genetic testing; however, no clinical information or segregation data was provided (Waldmüller et al., 2008). This variant results in a conservative amino acid substitution of arginine to histidine at a position that is conserved through mammals. Two variants in the same residue (R783P, R783C) have been reported in association with cardiomyopathy (Homayoun et al., 2011; Pugh et al., 2014; Homburger et al., 2016). Moreover, several variants in nearby residues (D778V, D778G, D778E, E779D, L781M, S782D, S782R, R787C, R787H) have been reported in HGMD in association with HCM (Stenson et al., 2014), further supporting the functional importance of this region of the protein. Lastly, the R783H variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, R783H in the MYH7 gene is interpreted as a likely pathogenic variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455847 SCV000539835 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 proband
Ambry Genetics RCV000618642 SCV000740110 uncertain significance Cardiovascular phenotype 2017-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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