Submissions for variant NM_002109.6(HARS1):c.72G>A (p.Gln24=)

gnomAD frequency: 0.00054  dbSNP: rs148516171

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000650157	SCV000771994	likely benign	Usher syndrome type 3B	2024-12-16	criteria provided, single submitter	clinical testing
GeneDx	RCV001565512	SCV001788871	likely benign	not provided	2020-01-17	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics	RCV004025797	SCV002755237	likely benign	not specified	2019-07-11	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.
CeGaT Center for Human Genetics Tuebingen	RCV001565512	SCV004185308	likely benign	not provided	2024-11-01	criteria provided, single submitter	clinical testing	HARS1: BP4
PreventionGenetics, part of Exact Sciences	RCV003953173	SCV004775923	likely benign	HARS1-related disorder	2020-02-18	no assertion criteria provided	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).