ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.442A>G (p.Met148Val)

gnomAD frequency: 0.00011  dbSNP: rs370456245
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001890492 SCV002151023 uncertain significance 46,XY sex reversal 9 2021-05-26 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ZFPM2-related conditions. This variant is present in population databases (rs370456245, ExAC 0.04%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This sequence change replaces methionine with valine at codon 148 of the ZFPM2 protein (p.Met148Val). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and valine.
CeGaT Center for Human Genetics Tuebingen RCV002292445 SCV002586241 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing ZFPM2: BP4

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