ClinVar Miner

Submissions for variant NM_000371.3(TTR):c.421_423GTC[1] (p.Val142del) (rs121918096)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000014402 SCV000696633 pathogenic Amyloidogenic transthyretin amyloidosis 2016-08-16 criteria provided, single submitter clinical testing Variant summary: The TTR c.424_426delGTC (p.Val142del) variant causes an in-frame deletion in the last exon. The variant of interest was not observed in controls (ExAC, 1000 Gs, or ESP) and has been reported in multiple affected individuals including a large family in which the variant segregates with disease (Munar-Ques_2001). The variant of interest has been classified as pathogenic/likely pathogenic by multiple reputable databases/clinical laboratories. Therefore, the variant of interest has been classified as Pathogenic.
OMIM RCV000014402 SCV000034651 pathogenic Amyloidogenic transthyretin amyloidosis 2000-11-01 no assertion criteria provided literature only
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000014402 SCV000060032 likely pathogenic Amyloidogenic transthyretin amyloidosis 2008-09-02 no assertion criteria provided clinical testing

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