ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7267C>T (p.Pro2423Ser)

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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 RCV002370745 SCV002667025 uncertain significance Cardiovascular phenotype 2024-11-22 criteria provided, single submitter clinical testing The c.7183C>T (p.P2395S) alteration is located in exon 2 (coding exon 2) of the ZNF469 gene. This alteration results from a C to T substitution at nucleotide position 7183, causing the proline (P) at amino acid position 2395 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098492 SCV003275134 uncertain significance not provided 2022-05-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 2395 of the ZNF469 protein (p.Pro2395Ser). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV005019191 SCV005646309 uncertain significance Brittle cornea syndrome 1 2024-04-01 criteria provided, single submitter clinical testing

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