ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.6058C>G (p.Pro2020Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002603238 SCV003496944 uncertain significance Genitopatellar syndrome 2022-09-05 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. 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"). This variant has not been reported in the literature in individuals affected with KAT6B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2020 of the KAT6B protein (p.Pro2020Ala).
PreventionGenetics, part of Exact Sciences RCV004741406 SCV005358790 uncertain significance KAT6B-related disorder 2024-06-11 no assertion criteria provided clinical testing The KAT6B c.6058C>G variant is predicted to result in the amino acid substitution p.Pro2020Ala. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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