ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.5379G>A (p.Lys1793=)

gnomAD frequency: 0.00001  dbSNP: rs866183007
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001331122 SCV001523070 uncertain significance Hydrocephalus, nonsyndromic, autosomal recessive 2 2020-01-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546446 SCV002953788 uncertain significance not provided 2022-02-20 criteria provided, single submitter clinical testing 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1029762). This variant has not been reported in the literature in individuals affected with MPDZ-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change affects codon 1793 of the MPDZ mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MPDZ protein. This variant also falls at the last nucleotide of exon 39, which is part of the consensus splice site for this exon.
Breakthrough Genomics, Breakthrough Genomics RCV002546446 SCV005196309 uncertain significance not provided criteria provided, single submitter not provided

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