ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=)

dbSNP: rs1446298826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767953 SCV000898658 uncertain significance Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 2021-03-30 criteria provided, single submitter clinical testing DYNC1H1 NM_001376 exon 65 p.Thr4028Thr (c.12084C>G): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV002533927 SCV003288237 likely benign Charcot-Marie-Tooth disease axonal type 2O 2022-05-21 criteria provided, single submitter clinical testing

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