Submissions for variant NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)

gnomAD frequency: 0.00220  dbSNP: rs139372744

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000199607	SCV000250991	uncertain significance	not provided	2021-03-30	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
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199607	SCV001049955	likely benign	not provided	2023-08-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001161849	SCV001323756	likely benign	Combined oxidative phosphorylation defect type 8	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.
Baylor Genetics	RCV001161849	SCV001526837	uncertain significance	Combined oxidative phosphorylation defect type 8	2023-05-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004553069	SCV004750520	benign	AARS2-related disorder	2019-06-25	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).