ClinVar Miner

Submissions for variant NM_004722.4(AP4M1):c.1129del (p.Leu377fs)

dbSNP: rs1432802140
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001092657 SCV001249268 likely pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001092657 SCV003924640 pathogenic not provided 2023-01-04 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 77 amino acids are replaced with 66 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Unpublished functional studies using patient fibroblasts carrying c.1129del in trans with c.974+115dup suggest that ATG9A transport and therefore AP-4 function is disrupted in these cells (External communication with Ebrahimi-Fakhari Lab - Boston Childrens Hospital, Harvard Medical School); Has not been previously published as pathogenic or benign to our knowledge

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