ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.265_270del (p.Ile89_Asp90del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003448933 SCV004176728 uncertain significance Roussy-Lévy syndrome; Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating, 2 2023-12-11 criteria provided, single submitter clinical testing The c.265_270del variant is not present in publicly available population databases like 1000 Genomes, EVS, ExAC, gnomAD, Indian Exome Database or our in-house exome database. This variant has neither been reported in the literature in individuals affected with MPZ-related conditions nor reported to the clinical databases like Human Genome Mutation Database (HGMD), ClinVar or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD, Varsome etc predicted this variant to be likely deleterious. This variant is located in a mutational hotspot and non-repeat region of the gene that causes in-frame deletion of 2 amino acids that results in change of protein coding length.

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