ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr) (rs876657662)

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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 RCV000221536 SCV000271272 likely pathogenic Primary dilated cardiomyopathy 2016-03-16 criteria provided, single submitter clinical testing The p.Ala166Thr variant in TPM1 has been reported by our laboratory to have appa rently occurred de novo in one child with DCM. It has not been identified in lar ge population studies. Alanine (Ala) at position 166 of the TPM1 protein is high ly conserved in mammals and across evolutionarily distant species and the change to threonine (Thr) was predicted to be pathogenic using a computational tool cl inically validated by our laboratory. This tool's pathogenic prediction is estim ated to be correct 94% of the time (Jordan 2011). In summary, although additiona l studies are required to fully establish its clinical significance, this varian t is likely pathogenic.

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