ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3358G>T (p.Ala1120Ser)

gnomAD frequency: 0.00003  dbSNP: rs777180869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571888 SCV001796441 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003530199 SCV004319662 uncertain significance Genitopatellar syndrome 2023-04-23 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1205272). This variant has not been reported in the literature in individuals affected with KAT6B-related conditions. This variant is present in population databases (rs777180869, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1120 of the KAT6B protein (p.Ala1120Ser). 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 RCV005040325 SCV005682320 uncertain significance Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2024-04-20 criteria provided, single submitter clinical testing

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