ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs)

dbSNP: rs1956840371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002537927 SCV003286049 pathogenic not provided 2024-10-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu501Phefs*13) in the MPDZ gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MPDZ are known to be pathogenic (PMID: 23240096, 28556411). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MPDZ-related conditions. ClinVar contains an entry for this variant (Variation ID: 993002). For these reasons, this variant has been classified as Pathogenic.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283804 SCV001469196 likely pathogenic Hydrocephalus, nonsyndromic, autosomal recessive 2 2020-09-10 no assertion criteria provided clinical testing

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