Submissions for variant NM_006859.4(LIAS):c.57A>C (p.Arg19Ser)

gnomAD frequency: 0.00364  dbSNP: rs140921822

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000442643	SCV000513480	benign	not specified	2017-10-24	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082170	SCV000652153	benign	Lipoic acid synthetase deficiency	2025-01-30	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712219	SCV000842657	likely benign	not provided	2017-09-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003168627	SCV003889152	likely benign	Inborn genetic diseases	2023-02-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Breakthrough Genomics, Breakthrough Genomics	RCV000712219	SCV005257304	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003970117	SCV004781474	benign	LIAS-related disorder	2019-08-28	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).