Submissions for variant NM_002860.4(ALDH18A1):c.2207-3C>T

gnomAD frequency: 0.00472  dbSNP: rs149309642

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000610594	SCV000366278	likely benign	ALDH18A1-related de Barsy 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV000435799	SCV000528965	likely benign	not specified	2018-01-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV003765768	SCV000638208	benign	Cutis laxa, autosomal dominant 3; Autosomal dominant spastic paraplegia type 9; de Barsy syndrome	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000585000	SCV000692697	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ALDH18A1: BP4, BS2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000610594	SCV000745118	likely benign	ALDH18A1-related de Barsy syndrome	2015-05-29	criteria provided, single submitter	clinical testing
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV000435799	SCV000864345	likely benign	not specified	2017-04-26	criteria provided, single submitter	clinical testing	BS1, BP6; This alteration has an allele frequency that is greater than expected for the associated disease, and was reported as a benign/likely benign alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory).
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001848074	SCV002106247	likely benign	Hereditary spastic paraplegia	2020-12-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003920239	SCV004734718	likely benign	ALDH18A1-related condition	2020-05-15	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610594	SCV000732984	likely benign	ALDH18A1-related de Barsy syndrome		no assertion criteria provided	clinical testing