ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)

gnomAD frequency: 0.00001  dbSNP: rs376901405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205590 SCV000261900 likely benign Charcot-Marie-Tooth disease axonal type 2O 2025-01-27 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173860 SCV001336976 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV001657995 SCV001873869 likely benign not provided 2021-11-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function
PreventionGenetics, part of Exact Sciences RCV003417750 SCV004117468 uncertain significance DYNC1H1-related disorder 2023-04-21 criteria provided, single submitter clinical testing The DYNC1H1 c.7539G>C variant is predicted to result in the amino acid substitution p.Glu2513Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0026% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-102482751-G-C). This variant is classified as likely benign/uncertain in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/220931/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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