ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro)

dbSNP: rs368486644
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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 RCV000233426 SCV000289860 uncertain significance 46,XY sex reversal 9 2022-01-07 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 699 of the ZFPM2 protein (p.His699Pro). This variant is present in population databases (rs368486644, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ZFPM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 240842). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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