ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn)

gnomAD frequency: 0.00035  dbSNP: rs550048327
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001694435 SCV001907985 benign not provided 2019-11-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496008 SCV002803558 likely benign Genitopatellar syndrome; Blepharophimosis - intellectual disability syndrome, SBBYS type 2021-07-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002538610 SCV002997332 likely benign Genitopatellar syndrome 2024-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988708 SCV005604089 likely benign Inborn genetic diseases 2024-09-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004741056 SCV005353957 likely benign KAT6B-related disorder 2024-07-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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