Submissions for variant NM_173076.3(ABCA12):c.7715A>G (p.Tyr2572Cys)

gnomAD frequency: 0.00019  dbSNP: rs199846944

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV001198679	SCV001369674	uncertain significance	Autosomal recessive congenital ichthyosis 4B	2018-10-01	criteria provided, single submitter	clinical testing	This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: No criteria apply.
Fulgent Genetics, Fulgent Genetics	RCV002491597	SCV002775293	uncertain significance	Autosomal recessive congenital ichthyosis 4A; Autosomal recessive congenital ichthyosis 4B	2022-01-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004033481	SCV004860290	uncertain significance	Inborn genetic diseases	2023-10-14	criteria provided, single submitter	clinical testing	The c.7715A>G (p.Y2572C) alteration is located in exon 53 (coding exon 53) of the ABCA12 gene. This alteration results from a A to G substitution at nucleotide position 7715, causing the tyrosine (Y) at amino acid position 2572 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.