ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1749C>T (p.Cys583=)

gnomAD frequency: 0.00002  dbSNP: rs758399311
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000966596 SCV001113936 likely benign not provided 2024-11-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001280936 SCV001468283 benign not specified 2020-12-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002409281 SCV002716111 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-11-18 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.
GeneDx RCV000966596 SCV005421184 uncertain significance not provided 2024-06-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown

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