ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.595-6A>G (rs1554749794)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518495 SCV000614153 uncertain significance not specified 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV000554764 SCV000657843 uncertain significance Charcot-Marie-Tooth disease type 4 2017-11-06 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the NDRG1 gene. It does not directly change the encoded amino acid sequence of the NDRG1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a NDRG1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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