ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2247C>T (p.Tyr749=)

gnomAD frequency: 0.00004  dbSNP: rs779077819
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608541 SCV000726861 likely benign not specified 2018-01-16 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 RCV000877756 SCV001020538 likely benign not provided 2023-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000877756 SCV002064089 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing LZTR1: BP4, BP7
Ambry Genetics RCV002431808 SCV002731028 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-10-15 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000608541 SCV002819815 benign not specified 2022-12-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533238 SCV004732951 likely benign LZTR1-related disorder 2020-08-17 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).

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