ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.852C>T (p.Ile284=) (rs41540414)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716819 SCV000847663 likely benign Seizures 2016-06-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000127553 SCV000614736 benign not specified 2017-07-17 criteria provided, single submitter clinical testing
GeneDx RCV000127553 SCV000171130 benign not specified 2013-11-05 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.
Invitae RCV000471756 SCV000556252 benign Progressive sclerosing poliodystrophy 2017-12-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000127553 SCV000309151 likely benign not specified criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000471756 SCV000887090 benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.852C>T (NP_002684.1:p.Ile284=) [GRCH38: NC_000015.10:g.89330084G>A] variant in POLG gene is interpretated to be a Benign based on ACMG guidelines (PMID: 25741868). This variant meets the following evidence codes reported in the ACMG-guideline. BS1:The minor allele frequency of this allele is high for Mitochondrial DNA depletion syndrome 4A (Alpers type). BS2:Observation of the variant in controls is inconsistent with penetrance of Mitochondrial DNA depletion syndrome 4A (Alpers type). Based on the evidence criteria codes applied, the variant is suggested to be Benign.

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