ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met) (rs780676515)

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Total submissions: 1
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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 Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant; Charcot-Marie-Tooth disease, axonal, type 2O; Mental retardation, autosomal dominant 13 2018-10-24 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.

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