Submissions for variant NM_000026.4(ADSL):c.124C>T (p.Leu42=)

gnomAD frequency: 0.00969  dbSNP: rs2228415

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000116237	SCV000166889	benign	not specified	2012-11-20	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.
Eurofins Ntd Llc (ga)	RCV000116237	SCV000224128	benign	not specified	2014-06-09	criteria provided, single submitter	clinical testing
Invitae	RCV000226786	SCV000282683	benign	Adenylosuccinate lyase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000116237	SCV000301556	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000226786	SCV000438673	benign	Adenylosuccinate lyase deficiency	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.
Athena Diagnostics	RCV000116237	SCV000612280	benign	not specified	2017-06-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003430666	SCV004147963	benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	ADSL: BP4, BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000116237	SCV000150154	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.