ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys)

dbSNP: rs374224714
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002273670 SCV002558562 pathogenic not provided 2022-01-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33486010)
Athena Diagnostics RCV002273670 SCV002770710 uncertain significance not provided 2022-02-03 criteria provided, single submitter clinical testing

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