ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.988-10A>G

gnomAD frequency: 0.00002  dbSNP: rs370880177
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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 RCV000652683 SCV000774554 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2023-08-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 542282). This variant has not been reported in the literature in individuals affected with MORC2-related conditions. This variant is present in population databases (rs370880177, gnomAD 0.01%). This sequence change falls in intron 11 of the MORC2 gene. It does not directly change the encoded amino acid sequence of the MORC2 protein.

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