ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.2541G>A (p.Val847=)

dbSNP: rs1595601645
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804319 SCV000944223 uncertain significance Charcot-Marie-Tooth disease axonal type 2O 2022-08-09 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This sequence change affects codon 847 of the DYNC1H1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DYNC1H1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYNC1H1-related conditions. ClinVar contains an entry for this variant (Variation ID: 649397).
Molecular Genetics Laboratory, London Health Sciences Centre RCV001174020 SCV001337140 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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