ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.2364C>T (p.Pro788=)

dbSNP: rs769078887
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001758067 SCV001985556 uncertain significance not provided 2020-06-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV001758067 SCV002210537 uncertain significance not provided 2024-10-14 criteria provided, single submitter clinical testing This sequence change affects codon 788 of the MPDZ mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MPDZ protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs769078887, gnomAD 0.03%). 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: 1303774). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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