ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala)

gnomAD frequency: 0.00017  dbSNP: rs546332627
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001774618 SCV002002935 uncertain significance not provided 2020-03-24 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001774618 SCV002157680 uncertain significance not provided 2022-09-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2410 of the ZNF469 protein (p.Pro2410Ala). This variant is present in population databases (rs546332627, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with ZNF469-related conditions. ClinVar contains an entry for this variant (Variation ID: 1315368). 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 alanine 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 RCV002370301 SCV002670103 uncertain significance Cardiovascular phenotype 2023-09-06 criteria provided, single submitter clinical testing The p.P2410A variant (also known as c.7228C>G), located in coding exon 2 of the ZNF469 gene, results from a C to G substitution at nucleotide position 7228. The proline at codon 2410 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV002503234 SCV002793664 uncertain significance Brittle cornea syndrome 1 2022-01-28 criteria provided, single submitter clinical testing

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