ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.507A>T (p.Gly169=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004785953 SCV005402167 uncertain significance Noonan syndrome 10 2023-12-13 criteria provided, single submitter clinical testing The LZTR1 c.507A>T (p.Gly169=) synonymous change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). Algorithms that predict the impact of sequence changes on splicing indicate that this change may impact splicing, but to our knowledge these predictions have not been confirmed by RNA studies. To our knowledge, this variant has not been reported in the literature in individuals with LZTR1-related disease. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.  

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