ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.2332G>A (p.Ala778Thr)

gnomAD frequency: 0.00001  dbSNP: rs761152033
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996360 SCV001151043 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000996360 SCV002198002 uncertain significance not provided 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 778 of the ZNF469 protein (p.Ala778Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with ZNF469-related conditions. 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 threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV002454241 SCV002738042 likely benign Cardiovascular phenotype 2022-03-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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