ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.704del (p.Pro235fs)

dbSNP: rs2040742194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001307684 SCV001497105 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2020-09-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MORC2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro235Glnfs*19) in the MORC2 gene. It is expected to result in an absent or disrupted protein product. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MORC2 cause disease.

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