ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.436G>A (p.Asp146Asn)

dbSNP: rs1057523861
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443148 SCV000533580 pathogenic not provided 2020-06-26 criteria provided, single submitter clinical testing Published functional studies demonstrate that this variant has a damaging effect by causing mitochondrial network hyperfusion, reduced mitochondrial turnover, and elongated peroxisomes through a dominant negative mechanism (Longo et al., 2020); Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31868880)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002556 SCV001160527 likely pathogenic not specified 2019-05-22 criteria provided, single submitter clinical testing

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