ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.789AGA[1] (p.Glu264del)

dbSNP: rs1396335431
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052109 SCV002318561 uncertain significance Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 2022-03-22 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). Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function(PM4_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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