ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.4909A>G (p.Thr1637Ala)

gnomAD frequency: 0.00001  dbSNP: rs751337843
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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 RCV001976914 SCV002261417 uncertain significance not provided 2022-02-05 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 1637 of the MPDZ protein (p.Thr1637Ala). This variant is present in population databases (rs751337843, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with MPDZ-related conditions. 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. 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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