ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val)

gnomAD frequency: 0.00001  dbSNP: rs992393537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174000 SCV001337120 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005093741 SCV005833309 likely benign Charcot-Marie-Tooth disease axonal type 2O 2024-10-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908428 SCV004718194 uncertain significance DYNC1H1-related disorder 2024-02-13 no assertion criteria provided clinical testing The DYNC1H1 c.12250A>G variant is predicted to result in the amino acid substitution p.Ile4084Val. This variant is present in the AAA6 domain, which is within the motor domain of DYNC1H1. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. 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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