ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu)

gnomAD frequency: 0.00034  dbSNP: rs200671886
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212216 SCV001383793 uncertain significance 46,XY sex reversal 9 2024-01-09 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 155 of the ZFPM2 protein (p.Lys155Glu). This variant is present in population databases (rs200671886, gnomAD 0.04%), and has an allele count higher than expected for a pathogenic variant. 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: 942265). 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. 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.
Ambry Genetics RCV002562381 SCV003728379 uncertain significance Inborn genetic diseases 2024-02-22 criteria provided, single submitter clinical testing The c.463A>G (p.K155E) alteration is located in exon 5 (coding exon 5) of the ZFPM2 gene. This alteration results from a A to G substitution at nucleotide position 463, causing the lysine (K) at amino acid position 155 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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