ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003748835 SCV004522133 uncertain significance 46,XY sex reversal 9 2023-11-03 criteria provided, single submitter clinical testing This variant, c.898_900dup, results in the insertion of 1 amino acid(s) of the ZFPM2 protein (p.Phe300dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs774999938, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions. 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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