ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) (rs397516370)

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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 RCV000036328 SCV000059980 likely pathogenic Primary dilated cardiomyopathy 2011-11-14 criteria provided, single submitter clinical testing The Glu114Gly variant (TPM1) has not been previously reported, but has been iden tified in 1 individual with DCM out of >2000 Caucasian probands tested by our la boratory. This low frequency supports a pathogenic role. In addition, glutamic a cid (Glu) is highly conserved across evolutionarily distant species, increasing the likelihood that a change would not be tolerated. Finally, this variant was p redicted to be pathogenic using a computational tool, which was validated by our laboratory using a set of cardiomyopathy variants with well-established clinica l significance. This tool's pathogenic prediction is estimated to be correct 94% of the time (Jordan 2011). In summary, the Glu114Gly variant is likely to be pa thogenic, though segregation studies and functional analyses are required to est ablish this with certainty.

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