ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp)

gnomAD frequency: 0.00016  dbSNP: rs142309185
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001562715 SCV001785525 likely benign not provided 2021-01-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002495896 SCV002794701 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2022-04-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568418 SCV003244562 uncertain significance Genitopatellar syndrome 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1010 of the KAT6B protein (p.Arg1010Trp). This variant is present in population databases (rs142309185, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of KAT6B-related conditions (PMID: 33004838, 36549658). ClinVar contains an entry for this variant (Variation ID: 1198527). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt KAT6B protein function with a negative predictive value of 80%. 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.
CeGaT Center for Human Genetics Tuebingen RCV001562715 SCV004009989 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing KAT6B: BS1

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