ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.5278G>A (p.Ala1760Thr)

dbSNP: rs1554644827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001855393 SCV002127697 uncertain significance not provided 2020-12-21 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with hydrocephalus (PMID: 28556411). ClinVar contains an entry for this variant (Variation ID: 548150). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 1760 of the MPDZ protein (p.Ala1760Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine.
OMIM RCV000660888 SCV000783121 pathogenic Hydrocephalus, nonsyndromic, autosomal recessive 2 2018-07-10 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000660888 SCV001132846 uncertain significance Hydrocephalus, nonsyndromic, autosomal recessive 2 2019-01-29 no assertion criteria provided clinical testing

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