ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1220G>A (p.Cys407Tyr) (rs1555938741)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817470 SCV000958033 pathogenic Charcot-Marie-Tooth disease, axonal, type 2z 2020-07-24 criteria provided, single submitter clinical testing This sequence change replaces cysteine with tyrosine at codon 345 of the MORC2 protein (p.Cys345Tyr). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 28771897, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 660304). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). For these reasons, this variant has been classified as Pathogenic. 5

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