ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: 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 2019-07-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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. 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"). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 26659848).
Genesis Genome Database RCV000857124 SCV000999702 uncertain significance Charcot-Marie-Tooth disease 2019-08-14 no assertion criteria provided research

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