ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1569G>A (p.Trp523Ter)

dbSNP: rs2147253941
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002031575 SCV002311945 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2021-02-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp523*) in the MORC2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MORC2 cause disease. This variant has not been reported in the literature in individuals with MORC2-related conditions. 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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