ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.2264A>C (p.Lys755Thr) (rs770438363)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000598297 SCV000708424 uncertain significance not provided 2017-05-09 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000758303 SCV000886958 likely pathogenic Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.2264A>C (NP_002684.1:p.Lys755Thr) [GRCH38: NC_000015.10:g.89323405T>G] variant in POLG gene is interpretated to be a Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant meets the following evidence codes reported in the ACMG-guideline. PS1:This variation causes same amino-acid change as an established pathogenic variant. PM2:This variant is absent in key population databases. Based on the evidence criteria codes applied, the variant is suggested to be Likely Pathogenic.

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