ClinVar Miner

Submissions for variant NM_000530.8(MPZ):c.235-9_267dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005195727 SCV005837235 uncertain significance Charcot-Marie-Tooth disease, type I 2024-09-30 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the MPZ gene. It does not directly change the encoded amino acid sequence of the MPZ protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of Charcot-Marie-Tooth disease (internal data). This variant is also known as c.235-9_267dup (p.Ile89_Asp90insSerSer*). Experimental studies and prediction algorithms are not available or were not evaluated, and the effect of this variant on mRNA splicing is currently unknown. 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.

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