ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2128C>T (p.Pro710Ser) (rs780648306)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000652679 SCV000774550 uncertain significance Charcot-Marie-Tooth disease, axonal, type 2z 2018-10-30 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 648 of the MORC2 protein (p.Pro648Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs780648306, ExAC 0.05%). This variant has not been reported in the literature in individuals with MORC2-related disease. ClinVar contains an entry for this variant (Variation ID: 542278). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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