ClinVar Miner

Submissions for variant NM_003884.5(KAT2B):c.104C>T (p.Ala35Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004216298 SCV003717269 uncertain significance not specified 2022-06-09 criteria provided, single submitter clinical testing The c.104C>T (p.A35V) alteration is located in exon 1 (coding exon 1) of the KAT2B gene. This alteration results from a C to T substitution at nucleotide position 104, causing the alanine (A) at amino acid position 35 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003946404 SCV004758946 likely benign KAT2B-related disorder 2024-04-22 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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