ClinVar Miner

Submissions for variant NM_018684.4(ZC4H2):c.469G>A (p.Ala157Thr)

gnomAD frequency: 0.00001  dbSNP: rs756615930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001572168 SCV001796760 likely benign not provided 2021-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001572168 SCV004674635 uncertain significance not provided 2023-03-01 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1205492). This variant has not been reported in the literature in individuals affected with ZC4H2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 157 of the ZC4H2 protein (p.Ala157Thr).

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