ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.1583del (p.Asn528fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005018469 SCV005648883 likely pathogenic Autosomal recessive congenital ichthyosis 4A; Autosomal recessive congenital ichthyosis 4B 2024-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005112749 SCV005744368 pathogenic not provided 2024-03-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn528Ilefs*5) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ABCA12-related conditions. For these reasons, this variant has been classified as Pathogenic.

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