ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.3568C>G (p.Pro1190Ala)

dbSNP: rs1775274397
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001994213 SCV002269061 uncertain significance not provided 2021-08-08 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 1190 of the ZNF292 protein (p.Pro1190Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ZNF292-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest 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.

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