ClinVar Miner

Submissions for variant NM_016188.5(ACTL6B):c.695del (p.Pro232fs)

dbSNP: rs779550102
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001533051 SCV001748871 pathogenic ACTL6B-related BAFopathy 2021-06-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001815492 SCV002062767 uncertain significance not provided 2021-12-01 criteria provided, single submitter clinical testing
3billion RCV002051910 SCV002318473 pathogenic Developmental and epileptic encephalopathy, 76 2022-03-22 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant.It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency:0.0000247 ).This variant has been reported as pathogenic (ClinVar ID: VCV000828180, PMID:31031012). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
CHU Sainte-Justine Research Center, University of Montreal RCV001028077 SCV001190860 likely pathogenic ACTL6B-related recessive epilepsy 2019-03-01 no assertion criteria provided research

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