ClinVar Miner

Submissions for variant NM_001126131.2(POLG):c.133_134insGGC (p.Gln45_Gln46insArg) (rs1567194472)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000758438 SCV000887145 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.133_134insGGC (NP_002684.1:p.Gln44_Gln45insArg) [GRCH38: NC_000015.10:g.89333623_89333624insCGC] variant in POLG gene is interpretated to be a Likely Benign based on ACMG guidelines (PMID: 25741868). This variant meets the following evidence codes reported in the ACMG-guideline. BS2:Observation of the variant in controls is inconsistent with penetrance of Mitochondrial DNA depletion syndrome 4A (Alpers type). BP2:The variant is observed in trans/cis with a dominant variant. BP3:This variant results in inframe indel in repeats without known function. Based on the evidence criteria codes applied, the variant is suggested to be Likely Benign.

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