ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.852C>T (p.Ile284=)

gnomAD frequency: 0.00345  dbSNP: rs41540414
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
PreventionGenetics, part of Exact Sciences RCV000127553 SCV000309151 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000471756 SCV000556252 benign Progressive sclerosing poliodystrophy 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000127553 SCV000614736 benign not specified 2017-07-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312921 SCV000847663 likely benign Inborn genetic diseases 2016-06-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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.
Breakthrough Genomics, Breakthrough Genomics RCV004704985 SCV005213951 likely benign not provided criteria provided, single submitter not provided

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