ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1994C>G (p.Ser665Cys)

gnomAD frequency: 0.00001  dbSNP: rs1402143255
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001924018 SCV002205475 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2022-10-17 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. 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. ClinVar contains an entry for this variant (Variation ID: 1424761). This variant has not been reported in the literature in individuals affected with MORC2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 665 of the MORC2 protein (p.Ser665Cys).
Baylor Genetics RCV001924018 SCV003835043 uncertain significance Charcot-Marie-Tooth disease axonal type 2Z 2021-05-07 criteria provided, single submitter clinical testing

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