ClinVar Miner

Submissions for variant NM_012062.5(DNM1L):c.1596+2T>A

gnomAD frequency: 0.00001  dbSNP: rs769684495
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002022615 SCV002292521 likely pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 14 of the DNM1L gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in DNM1L are known to be pathogenic (PMID: 26825290, 27328748). This variant is present in population databases (rs769684495, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with DNM1L-related conditions. ClinVar contains an entry for this variant (Variation ID: 1503004). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002507784 SCV002804881 likely pathogenic Optic atrophy 5; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 2021-08-05 criteria provided, single submitter clinical testing

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