ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn) (rs397516363)

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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 RCV000036316 SCV000059968 likely pathogenic Primary dilated cardiomyopathy 2011-04-20 criteria provided, single submitter clinical testing The Asp55Asn variant has not been reported in the literature nor been previously identified by our laboratory. Aspartic acid (Asp) at amino acid position 55 is highly conserved across evolutionary distant species, increasing the likelihood that the change is pathogenic. In addition, this family?s racial origin is repor ted to be Caucasian and the Asp55Asn variant has not been identified in over 165 0 Caucasian probands tested by our laboratory (LMM unpublished data). This low f requency also supports a pathogenic role. Finally, this variant was predicted to be pathogenic using a novel computational tool, which was validated by our labo ratory using a set of cardiomyopathy variants with well-established clinical sig nificance. This tool's pathogenic prediction is estimated to be correct 94% of t he time, which suggests but does not prove that this variant is pathogenic (Jord an 2011). In summary, this variant is likely to be pathogenic.

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