ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile)

gnomAD frequency: 0.00001  dbSNP: rs761695197
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236258 SCV000293878 likely benign not provided 2019-05-07 criteria provided, single submitter clinical testing
Invitae RCV000649564 SCV000771393 likely benign Charcot-Marie-Tooth disease axonal type 2O 2023-10-17 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002057258 SCV002496104 uncertain significance Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; Charcot-Marie-Tooth disease axonal type 2O; Intellectual disability, autosomal dominant 13 2022-02-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature but is present in 0.07% (8/10370) of Ashkenazi Jewish alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/14 102467986 G A?dataset=gnomad_r2_1). This variant is present in ClinVar (Variation ID:246361). Evolutionary conservation suggests that this variant may impact the protein; computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Ambry Genetics RCV002338774 SCV002639029 likely benign Inborn genetic diseases 2022-04-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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