ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3630C>A (p.Tyr1210Ter)

dbSNP: rs139562274
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV006440165 SCV006323583 likely pathogenic POLG-related disorder 2025-05-09 criteria provided, single submitter clinical testing NM_002693.2(POLG):c.3630C>A(Y1210*) is a nonsense variant classified as likely pathogenic in the context of POLG-related disorders. Y1210* has been observed in cases with relevant disease (PMID: 33486010). Relevant functional assessments of this variant are not available in the literature. Y1210* has not been observed in referenced population frequency databases. In summary, NM_002693.2(POLG):c.3630C>A(Y1210*) is a nonsense variant that has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening.
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000855761 SCV000998976 pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 2019-07-17 criteria provided, single submitter clinical testing

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