ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.479G>A (p.Arg160His) (rs199476311)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036336 SCV000059988 likely pathogenic Primary dilated cardiomyopathy 2010-09-27 criteria provided, single submitter clinical testing
GeneDx RCV000024595 SCV000617285 pathogenic not provided 2018-05-09 criteria provided, single submitter clinical testing The R160H variant has been reported previously as de novo in a patient with LVNC, whose father developed ischemic DCM following a major cardiac infarcation (Hoedemaekers et al., 2010). The R160H variant is a conservative amino acid substitution, that is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect; and functional studies suggest the presence of the R160H variant may alter protein interactions under various experimental conditions (Orzechowski et al., 2014). We interpret R160H as a pathogenic variant.
Leiden Muscular Dystrophy (TPM1) RCV000024595 SCV000045904 not provided not provided 2012-04-15 no assertion provided curation

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