ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.187A>T (p.Met63Leu) (rs748092969)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705875 SCV000834892 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2018-04-10 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MORC2 mRNA. The next in-frame methionine is located at codon 63. This variant is present in population databases (rs748092969, ExAC 0.08%). This variant has not been reported in the literature in individuals with MORC2-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MORC2 cause disease. 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.

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