ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.93C>G (p.Asp31Glu)

gnomAD frequency: 0.00085  dbSNP: rs148433683
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912463 SCV001057571 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332333 SCV001524622 uncertain significance Hydrocephalus, nonsyndromic, autosomal recessive 2 2019-11-20 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV003169287 SCV003868184 likely benign Inborn genetic diseases 2023-03-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994161 SCV004813996 uncertain significance not specified 2024-02-29 criteria provided, single submitter clinical testing Variant summary: MPDZ c.93C>G (p.Asp31Glu) results in a conservative amino acid change located in the L27 domain (IPR001478) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.0002 in 248890 control chromosomes. To our knowledge, no occurrence of c.93C>G in individuals affected with Hydrocephalus, Nonsyndromic, Autosomal Recessive 2 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 736778). Based on the evidence outlined above, the variant was classified as uncertain significance.

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