ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.3456G>A (p.Ser1152=)

gnomAD frequency: 0.00001  dbSNP: rs1249431423
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001547732 SCV001767509 uncertain significance not provided 2020-06-05 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports a deleterious effect on splicing; This variant is associated with the following publications: (PMID: 23528209, 28236338, 30916489)
Invitae RCV001547732 SCV004293946 pathogenic not provided 2023-04-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 23528209). ClinVar contains an entry for this variant (Variation ID: 1188072). This variant has been observed in individual(s) with congenital ichthyosis (PMID: 23528209). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects codon 1152 of the ABCA12 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ABCA12 protein.

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