ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1531G>A (p.Val511Met)

gnomAD frequency: 0.00046  dbSNP: rs200062851
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001280664 SCV001467954 likely benign not specified 2024-03-30 criteria provided, single submitter clinical testing
GeneDx RCV001664796 SCV001872944 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Co-observed with a 22q11.2 deletion that included the LZTR1 gene in an individual with features of both 22q11.2 deletion syndrome and Noonan syndrome (PMID: 35689529); This variant is associated with the following publications: (PMID: 32310333, 35689529)
Labcorp Genetics (formerly Invitae), Labcorp RCV001664796 SCV002323987 likely benign not provided 2025-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002393683 SCV002703870 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-08-17 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 RCV001664796 SCV005041977 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing LZTR1: BS1
PreventionGenetics, part of Exact Sciences RCV004734089 SCV005353708 likely benign LZTR1-related disorder 2024-03-04 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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