ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.263C>T (p.Ala88Val)

dbSNP: rs1602499659
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
The Genetics Institute, Rambam Health Care Campus RCV000857312 SCV000999384 likely pathogenic Charcot-Marie-Tooth disease axonal type 2Z 2019-12-01 criteria provided, single submitter clinical testing This variant was observed de novo in a patient with a neurodevelopmental disorder and dysmorphic features. This sequence change replaces Alanine with Valine at codon 88 of the MORC2 protein (p.Ala88Val). The Alanine residue is a highly conserved amino acid, up to c. elegans and there is a small physicochemical difference between Ala and Val (Grantham dist.: 64 [0-215]). This variant is absent from population databases (gnomAD). Pathogenic computational algorithms (DANN, MutationTaster, PolyPhen-2, SIFT, Align GVGD) are mostly supportive of a deleterious effect. a different pathogenic variant (p.Ser87Leu) was reported in proximity (Sevilla T. et al 2016, Douse C.H. et al 2018). We interpret this variant as likely pathogenic.

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