Submissions for variant NM_173076.3(ABCA12):c.7631C>T (p.Thr2544Ile)

gnomAD frequency: 0.00143  dbSNP: rs146834697

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000888409	SCV001032043	benign	not provided	2024-10-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001141721	SCV001302086	uncertain significance	Congenital ichthyosis of skin	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx	RCV000888409	SCV002504493	likely benign	not provided	2019-04-02	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005359642	SCV005915306	uncertain significance	Autosomal recessive congenital ichthyosis 4B	2023-01-12	criteria provided, single submitter	research
Ambry Genetics	RCV005318550	SCV005990259	benign	Inborn genetic diseases	2025-03-13	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences	RCV003948396	SCV004774485	likely benign	ABCA12-related disorder	2023-06-28	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).