Submissions for variant NM_006767.4(LZTR1):c.1530C>T (p.His510=)

gnomAD frequency: 0.00155  dbSNP: rs190714197

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000607024	SCV000728729	benign	not specified	2017-02-17	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000607024	SCV001362579	benign	not specified	2019-09-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001253833	SCV001429707	benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001253833	SCV001746437	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	LZTR1: BP4, BP7
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001253833	SCV002009539	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001813527	SCV002060530	benign	Noonan syndrome and Noonan-related syndrome	2020-11-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002404694	SCV002709699	likely benign	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2020-08-12	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.
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001253833	SCV001807718	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001253833	SCV001964414	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000607024	SCV002034306	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004533249	SCV004737608	benign	LZTR1-related disorder	2021-10-29	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).