ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705620 SCV000834625 uncertain significance 46,XY sex reversal 9 2018-06-26 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 440 of the ZFPM2 protein (p.Lys440Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs200311467, ExAC 0.01%). This variant has not been reported in the literature in individuals with ZFPM2-related disease. 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 tolerated, but 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.
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678773 SCV000804952 uncertain significance Tetralogy of Fallot 2017-06-08 no assertion criteria provided clinical testing

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