ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del)

dbSNP: rs763555819
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003586260 SCV004282972 uncertain significance 46,XY sex reversal 9 2023-11-29 criteria provided, single submitter clinical testing This variant, c.1818_1820del, results in the deletion of 1 amino acid(s) of the ZFPM2 protein (p.Leu607del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs763555819, gnomAD 0.004%). This variant has been observed in individual(s) with disorders of sex development (PMID: 27899157). This variant is also known as c.1816_1818del (p.L606del). ClinVar contains an entry for this variant (Variation ID: 805894). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant does not substantially affect ZFPM2 function (PMID: 31962012). 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.
Reproductive Development, Murdoch Childrens Research Institute RCV001007704 SCV001146901 benign 46,XY sex reversal 3 2019-08-26 no assertion criteria provided research

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