ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.411G>C (p.Met137Ile)

gnomAD frequency: 0.00001  dbSNP: rs760968251
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001808193 SCV002058766 uncertain significance Mitochondrial DNA deletion syndrome with progressive myopathy 2022-01-03 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). A missense variant is a common mechanism associated with Progressive external ophthalmoplegia with mitochondrial DNA deletions (PP2_P). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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