ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.502G>A (p.Ala168Thr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002335622 SCV002642993 uncertain significance Inborn genetic diseases 2018-04-20 criteria provided, single submitter clinical testing The p.A168T variant (also known as c.502G>A), located in coding exon 4 of the ZC4H2 gene, results from a G to A substitution at nucleotide position 502. The alanine at codon 168 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096576 SCV003009789 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388111 SCV004099924 uncertain significance not specified 2023-09-01 criteria provided, single submitter clinical testing Variant summary: ZC4H2 c.502G>A (p.Ala168Thr) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 7.7e-05 in 168866 control chromosomes including 2 hemizygotes, allowing no conclusions about variant significance. To our knowledge, no occurrence of c.502G>A in individuals affected with Wieacker-Wolff Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. One submitter classified the variant as benign, and one submitter classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

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