Submissions for variant NM_001303256.3(MORC2):c.743A>G (p.Tyr248Cys) (rs1355363942)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001209097	SCV001380518	uncertain significance	Charcot-Marie-Tooth disease, axonal, type 2z	2019-07-18	criteria provided, single submitter	clinical testing	This sequence change replaces tyrosine with cysteine at codon 248 of the MORC2 protein (p.Tyr248Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 26659848). 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 C0"). 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.
Genesis Genome Database	RCV000857124	SCV000999702	uncertain significance	Charcot-Marie-Tooth disease	2019-08-14	no assertion criteria provided	research

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