ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.825-3C>A

gnomAD frequency: 0.00001  dbSNP: rs752040112
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001957874 SCV002207802 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2024-04-29 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the MORC2 gene. It does not directly change the encoded amino acid sequence of the MORC2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs752040112, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MORC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1438519). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Ambry Genetics RCV002425289 SCV002680486 uncertain significance Inborn genetic diseases 2020-04-13 criteria provided, single submitter clinical testing The c.825-3C>A intronic variant results from a C to A substitution 3 nucleotides upstream from coding exon 10 in the MORC2 gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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