ClinVar Miner

Submissions for variant NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser)

gnomAD frequency: 0.00001  dbSNP: rs779361639
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243951 SCV001417143 uncertain significance 46,XY sex reversal 9 2019-10-26 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ZFPM2-related conditions. This variant is present in population databases (rs779361639, ExAC 0.01%). This sequence change replaces glycine with serine at codon 995 of the ZFPM2 protein (p.Gly995Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine.
Ambry Genetics RCV002568572 SCV003710024 uncertain significance Inborn genetic diseases 2022-06-01 criteria provided, single submitter clinical testing The c.2983G>A (p.G995S) alteration is located in exon 8 (coding exon 8) of the ZFPM2 gene. This alteration results from a G to A substitution at nucleotide position 2983, causing the glycine (G) at amino acid position 995 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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