ClinVar Miner

Submissions for variant NM_018486.3(HDAC8):c.351G>T (p.Gly117=)

gnomAD frequency: 0.00041  dbSNP: rs199969298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000871784 SCV001013496 benign Cornelia de Lange syndrome 5 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454011 SCV002616013 benign Inborn genetic diseases 2017-06-29 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV004754591 SCV005356080 likely benign HDAC8-related disorder 2024-03-27 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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