ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met)

dbSNP: rs780676515
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Total submissions: 5
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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 RCV000767952 SCV000898657 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_001376.4 exon 63 p.Val3936Met (c.11806G>A): This variant has not been reported in the literature and is present in 0.01% (4/35436) of Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/14-102506688-G-A). This variant amino acid Methionine (Met) is present in several species including multiple mammals, and it is not well conserved among evolutionarily distant species; this suggests that this variant may not impact the protein. Additional computational prediction tools do not suggest an impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV001662807 SCV001874922 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing
Invitae RCV001855967 SCV002213177 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-01-04 criteria provided, single submitter clinical testing
New York Genome Center RCV002275155 SCV002564204 uncertain significance Intellectual disability, autosomal dominant 13 2021-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002332545 SCV002633581 likely benign Inborn genetic diseases 2018-12-03 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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