ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003588048 SCV004337405 uncertain significance 46,XY sex reversal 9 2023-06-23 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 396 of the ZFPM2 protein (p.Asp396Asn).
PreventionGenetics, part of Exact Sciences RCV003901213 SCV004710703 uncertain significance ZFPM2-related disorder 2023-10-23 criteria provided, single submitter clinical testing The ZFPM2 c.1186G>A variant is predicted to result in the amino acid substitution p.Asp396Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/8-106813496-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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