ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.687_689dup (p.Leu230dup)

dbSNP: rs2137424964
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wellcome Centre for Mitochondrial Research, Newcastle University RCV002221287 SCV001976622 likely pathogenic Mitochondrial disease 2021-10-08 criteria provided, single submitter clinical testing
GeneDx RCV002508320 SCV002817615 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame insertion of 1 amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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