ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.596G>A (p.Trp199Ter)

dbSNP: rs1187032187
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000732721 SCV000860702 pathogenic not provided 2018-03-30 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV003448343 SCV004175971 likely pathogenic Autosomal recessive congenital ichthyosis 4A 2023-11-27 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP
Labcorp Genetics (formerly Invitae), Labcorp RCV000732721 SCV004293959 pathogenic not provided 2023-03-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 596779). This premature translational stop signal has been observed in individual(s) with clinical features of harlequin ichthyosis (PMID: 16902423, 27025581). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp199*) in the ABCA12 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA12 are known to be pathogenic (PMID: 20672373).

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