ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.1134G>A (p.Ser378=) (rs750369546)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000792343 SCV000931632 uncertain significance Charcot-Marie-Tooth disease type 4 2019-06-18 criteria provided, single submitter clinical testing This sequence change affects codon 378 of the NDRG1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the NDRG1 protein. This variant is present in population databases (rs750369546, ExAC 0.01%). This variant has not been reported in the literature in individuals with NDRG1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173726 SCV001336840 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Natera, Inc. RCV000792343 SCV001462042 uncertain significance Charcot-Marie-Tooth disease type 4 2020-09-16 no assertion criteria provided clinical testing

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