ClinVar Miner

Submissions for variant NM_006096.4(NDRG1):c.595-2A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040768 SCV001204357 likely pathogenic Charcot-Marie-Tooth disease type 4 2019-11-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 9 of the NDRG1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs758718584, ExAC 0.006%). This variant has not been reported in the literature in individuals with NDRG1-related conditions. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NDRG1 are known to be pathogenic (PMID: 12872253, 23996628). 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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