ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1462C>T (p.Arg488Trp)

dbSNP: rs1356503784
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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 RCV001876661 SCV002118602 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2021-10-01 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 not present in population databases (ExAC no frequency). This sequence change replaces arginine with tryptophan at codon 488 of the MORC2 protein (p.Arg488Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796670 SCV005418717 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy criteria provided, single submitter clinical testing PM2_Supporting+PP2+PP4

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