ClinVar Miner

Submissions for variant NM_006096.3(NDRG1):c.1077_1106dup (p.340_349TRSRSHTSEG[4]) (rs1554747463)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538119 SCV000657836 uncertain significance Charcot-Marie-Tooth disease type 4 2017-03-10 criteria provided, single submitter clinical testing This sequence change inserts 30 nucleotides in exon 16 of the NDRG1 mRNA (c.1077_1106dup). This leads to the insertion of 10 amino acid residues in the NDRG1 protein (p.Thr360_Gly369dup) but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with an NDRG1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. In summary, this variant is a rare in-frame duplication with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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