Submissions for variant NM_015340.4(LARS2):c.255C>T (p.Tyr85=)

gnomAD frequency: 0.00157  dbSNP: rs114881088

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000221390	SCV000270348	likely benign	not specified	2017-05-16	criteria provided, single submitter	clinical testing	p.Tyr85Tyr in exon 4 of LARS2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (259/126146) o f European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomAD .broadinstitute.org; dbSNP rs114881088).
GeneDx	RCV000992266	SCV000533820	likely benign	not provided	2020-09-04	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000992266	SCV001144419	benign	not provided	2019-02-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000992266	SCV001746461	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	LARS2: BP4, BP7
Invitae	RCV000992266	SCV002455339	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003907807	SCV004720945	likely benign	LARS2-related condition	2019-11-01	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).