Submissions for variant NM_000026.4(ADSL):c.895A>G (p.Met299Val)

gnomAD frequency: 0.00090  dbSNP: rs34396910

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000710485	SCV000232895	uncertain significance	not provided	2018-07-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000710485	SCV000240248	uncertain significance	not provided	2023-05-04	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae	RCV001087090	SCV000558605	likely benign	Adenylosuccinate lyase deficiency	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000710485	SCV000840718	uncertain significance	not provided	2020-11-04	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001087090	SCV004040780	uncertain significance	Adenylosuccinate lyase deficiency	2023-03-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907634	SCV004718628	likely benign	ADSL-related disorder	2023-06-06	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).