ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.1657+1G>T

dbSNP: rs758568142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003708550 SCV004479527 likely pathogenic not provided 2023-11-05 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the ABCA12 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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. ClinVar contains an entry for this variant (Variation ID: 560161). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000678036 SCV000803762 likely pathogenic Autosomal recessive congenital ichthyosis 4A 2018-08-13 no assertion criteria provided clinical testing The observed variant g.124093G>T (5'splice site) has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is disease-causing by MutationTaster2.

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