ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1226_1234GGGTTGTTG[3] (p.409_411GVV[3]) (rs1555938722)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555561 SCV000655805 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2016-09-05 criteria provided, single submitter clinical testing This sequence change inserts 9 nucleotides in exon 15 of the MORC2 mRNA (c.1049_1057dupGGGTTGTTG). This leads to the insertion of 3 amino acid residue(s) in the MORC2 protein (p.Gly350_Val352dup) but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MORC2-related disease. The impact of this sequence change on MORC2 function is unknown. In summary, this is a novel variant with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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