ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.3889C>T (p.Arg1297Ter)

gnomAD frequency: 0.00001  dbSNP: rs114863111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255106 SCV000321321 pathogenic not provided 2023-04-20 criteria provided, single submitter clinical testing Observed with a pathogenic variant on the opposite allele (in trans) in unrelated patients with Harlequin ichthyosis referred for genetic testing at GeneDx and reported in the published literature (Thomas et al., 2006); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22344438, 25525159, 20981092, 16902423)
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989509 SCV004807345 pathogenic Autosomal recessive congenital ichthyosis 4B 2024-03-26 criteria provided, single submitter clinical testing

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