ClinVar Miner

Submissions for variant NM_001376.5(DYNC1H1):c.11423GCA[2] (p.Ser3810del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003528534 SCV004244760 likely pathogenic Charcot-Marie-Tooth disease axonal type 2O 2024-01-02 criteria provided, single submitter clinical testing This variant, c.11429_11431del, results in the deletion of 1 amino acid(s) of the DYNC1H1 protein (p.Ser3810del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of DYNC1H1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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