ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3630dup (p.Gly1211fs)

dbSNP: rs113994101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen RCV000020479 SCV001994843 likely pathogenic Mitochondrial disease 2021-05-06 reviewed by expert panel curation The c.3630dup (p.Gly1211ArgfsTer6) variant in POLG was not in any databases (PM2). This variant results in a frameshift causing a loss of function (PVS1). There are no publications of cases with this variant. In summary, this variant meets criteria to be classified as likely pathogenic for mitochondrial disease inherited in an autosomal recessive manner. ntDNA ACMG/AMP criteria for POLG applied: PVS1, PM2
GeneReviews RCV000020479 SCV000040916 not provided Mitochondrial disease no assertion provided literature only

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