Submissions for variant NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val)

gnomAD frequency: 0.01228  dbSNP: rs115977487

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000355237	SCV000401253	benign	Sjögren-Larsson syndrome	2018-01-12	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514073	SCV000610772	likely benign	not provided	2017-04-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000514073	SCV001114830	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000514073	SCV001756837	benign	not provided	2021-05-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31388754)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001805021	SCV002050880	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000355237	SCV002801203	likely benign	Sjögren-Larsson syndrome	2022-05-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000514073	SCV004142447	benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	ALDH3A2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000514073	SCV005212348	likely benign	not provided		criteria provided, single submitter	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000514073	SCV000802404	likely benign	not provided	2016-02-29	no assertion criteria provided	clinical testing