ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.346_347del (p.Glu116fs)

dbSNP: rs879255687
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000239652 SCV001976905 uncertain significance Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 2021-10-06 criteria provided, single submitter clinical testing PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV001854933 SCV002124972 pathogenic not provided 2023-12-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu116Lysfs*6) in the DNM1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNM1L are known to be pathogenic (PMID: 26825290, 27328748). This variant is present in population databases (rs779230636, gnomAD 0.009%). This premature translational stop signal has been observed in individuals with autosomal recessive encephalopathy (PMID: 26825290, 27328748). It has also been observed to segregate with disease in related individuals. This variant is also known as NM_001278464.1:c.385_386del (p.Glu129Lys*6). ClinVar contains an entry for this variant (Variation ID: 253264). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001854933 SCV005080645 pathogenic not provided 2024-02-20 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 26825290, 33742459, 35982159, 35562572, 34573276, 29877124, 33718295, 35741050, 27328748)
OMIM RCV000239652 SCV000298167 pathogenic Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 2016-08-25 no assertion criteria provided literature only

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