ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.10134_10135inv (p.Asn3378_Tyr3379delinsLysAsn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764881 SCV001989390 uncertain significance not provided 2024-06-27 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25512093, 25609763, 26100331)
Labcorp Genetics (formerly Invitae), Labcorp RCV002543972 SCV003479151 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2022-08-03 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1304645). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. This variant, c.10134_10135delinsAA, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the DYNC1H1 protein (p.Asn3378_Tyr3379delinsLysAsn).

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