ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.585C>T (p.Ser195=)

gnomAD frequency: 0.00001  dbSNP: rs751813402
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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 RCV001231244 SCV001403758 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2021-04-17 criteria provided, single submitter clinical testing This sequence change affects codon 195 of the MORC2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MORC2 protein. This variant is present in population databases (rs751813402, ExAC 0.006%). This variant has not been reported in the literature in individuals with MORC2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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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