ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) (rs397516371)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036330 SCV000059982 likely pathogenic Primary dilated cardiomyopathy 2012-01-06 criteria provided, single submitter clinical testing The Met141Ile variant has not been reported in the literature but has been detec ted in 1individual with DCM out of >1,900 Caucasian individuals tested by our la boratory. Parental testing suggested that the variant occurred de novo in this individual, which provides strong support for a pathogenic role. Consistent wit h this, methionine (Met) at position 141 is conserved across evolutionary distan t species, suggesting that a change would not be tolerated.

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