ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.5570T>C (p.Ile1857Thr)

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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 RCV003048672 SCV003352768 uncertain significance not provided 2023-09-13 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2135543). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with KAT6A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1857 of the KAT6A protein (p.Ile1857Thr).
GeneDx RCV003048672 SCV004170890 uncertain significance not provided 2023-04-28 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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