ClinVar Miner

Submissions for variant NM_173076.3(ABCA12):c.4676G>T (p.Gly1559Val)

dbSNP: rs1457513156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052243 SCV002318836 uncertain significance Autosomal recessive congenital ichthyosis 4A 2022-03-22 criteria provided, single submitter clinical testing Same or different nucleotide change resulting in same amino acid change has been previously reported to be associated with ABCA12 related disorder (PMID:22257947). The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: [0.0000040). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.869>=0.6, 3CNET: 0.991>=0.75). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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