ClinVar Miner

Submissions for variant NM_001032283.3(TMPO):c.565+2376C>T

gnomAD frequency: 0.00015  dbSNP: rs202035749
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037750 SCV000061412 likely benign not specified 2021-01-26 criteria provided, single submitter clinical testing The p.Leu653Phe variant in TMPO is classified as likely benign because it has been identified in 0.3% (88/30610) of South Asian chromosomes, including 1 homozygote, and in 0.03% (43/128824) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. ACMG/AMP Criteria applied: BS1.
Invitae RCV001087301 SCV000561632 likely benign Loeys-Dietz syndrome 2 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000839110 SCV000980992 likely benign not provided 2018-05-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852685 SCV000995394 likely benign Arrhythmogenic right ventricular cardiomyopathy 2019-03-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000037750 SCV003922894 likely benign not specified 2023-03-01 criteria provided, single submitter clinical testing
Dept of Medical Biology, Uskudar University RCV003318343 SCV004021985 benign Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: BS1, BS2

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