ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.2577T>G (p.Ile859Met)

gnomAD frequency: 0.00002  dbSNP: rs780324349
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002046489 SCV002308118 uncertain significance not provided 2021-04-02 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 859 of the MPDZ protein (p.Ile859Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs780324349, ExAC 0.009%). This variant has not been reported in the literature in individuals with MPDZ-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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