ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.3022A>G (p.Thr1008Ala)

gnomAD frequency: 0.00001  dbSNP: rs200092543
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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 RCV002006699 SCV002296843 uncertain significance not provided 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 1008 of the MPDZ protein (p.Thr1008Ala). This variant is present in population databases (rs200092543, gnomAD 0.02%). 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. ClinVar contains an entry for this variant (Variation ID: 1506392). This variant has not been reported in the literature in individuals affected with MPDZ-related conditions.

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