ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1667C>T (p.Thr556Met)

gnomAD frequency: 0.00003  dbSNP: rs776665575
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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 RCV001978964 SCV002218870 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2021-11-21 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MORC2 protein function. This variant has not been reported in the literature in individuals affected with MORC2-related conditions. This variant is present in population databases (rs776665575, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 556 of the MORC2 protein (p.Thr556Met).
PreventionGenetics, part of Exact Sciences RCV003418229 SCV004108625 uncertain significance MORC2-related disorder 2023-04-10 criteria provided, single submitter clinical testing The MORC2 c.1667C>T variant is predicted to result in the amino acid substitution p.Thr556Met. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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