ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7138G>A (p.Ala2380Thr)

gnomAD frequency: 0.00006  dbSNP: rs550161377
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000235243 SCV000293802 uncertain significance not provided 2016-02-03 criteria provided, single submitter clinical testing The A2380T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Additionally, it was not observed with any significant frequency in the 1000 Genomes Project. The A2380T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species; however, Threonine is observed at this position in a distantly related species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV000806855 SCV000946874 benign Charcot-Marie-Tooth disease axonal type 2O 2025-02-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000806855 SCV003835787 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2022-12-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147430 SCV003835826 uncertain significance Intellectual disability, autosomal dominant 13 2022-12-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147429 SCV003836062 uncertain significance Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 2022-12-06 criteria provided, single submitter clinical testing

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