ClinVar Miner

Submissions for variant NM_006766.5(KAT6A):c.3764C>G (p.Ala1255Gly)

gnomAD frequency: 0.00010  dbSNP: rs373190705
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001693660 SCV001914503 benign not provided 2020-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343792 SCV002619726 likely benign Inborn genetic diseases 2018-09-30 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001693660 SCV003247528 benign not provided 2025-01-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948677 SCV004757024 likely benign KAT6A-related disorder 2021-09-17 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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