ClinVar Miner

Submissions for variant NM_012330.4(KAT6B):c.5002A>G (p.Ser1668Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003333816 SCV004041604 likely pathogenic Genitopatellar syndrome 2023-10-10 criteria provided, single submitter clinical testing The KAT6B-variant NM_001256468.2:c.4453A>G is classified by our institute as a likely pathogenic variant, as it is not present in any databases (gnomAD / ExAC), as a missense effect, what is a known pathomechanism for the associated disease, and the majority of the prediction programs used judge the variant to be damaging. The clinical symptoms of the patient fit to known symptoms for the associated diseases. The patient's parents do not carry the variant (in the case of nonproven parenthood).

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