ClinVar Miner

Submissions for variant NM_002693.2(POLG):c.1890C>T (p.Asn630=) (rs148658588)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000127566 SCV000171143 benign not specified 2013-01-30 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000127566 SCV000332722 likely benign not specified 2016-10-04 criteria provided, single submitter clinical testing
Invitae RCV000534504 SCV000630116 benign Progressive sclerosing poliodystrophy 2019-12-31 criteria provided, single submitter clinical testing
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine RCV000534504 SCV000887028 likely benign Progressive sclerosing poliodystrophy 2018-10-01 criteria provided, single submitter clinical testing The NM_002693.2:c.1890C>T (NP_002684.1:p.Asn630=) [GRCH38: NC_000015.10:g.89325509G>A] 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. BS1:The minor allele frequency of this allele is high for Mitochondrial DNA depletion syndrome 4A (Alpers type). BP4:Computational evidence/predictors indicate no impact on the POLG structure, function, or protein-protein interaction. BP7:The variant is silent with non predicted splice impact. Based on the evidence criteria codes applied, the variant is suggested to be Likely Benign.
Athena Diagnostics Inc RCV000858666 SCV001145150 likely benign not provided 2018-09-26 criteria provided, single submitter clinical testing

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