ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2220-14T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002882313 SCV003243497 likely benign not provided 2022-11-19 criteria provided, single submitter clinical testing
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV004786764 SCV005402169 uncertain significance Noonan syndrome 10 2024-01-08 criteria provided, single submitter clinical testing The LZTR1 c.2220-14T>C intronic change results in a T to C substitution at the -14 position of intron 18 of the LZTR1 gene. Algorithms that predict the impact of sequence changes on splicing indicate that this variant may impact splicing, but to our knowledge these predictions have not been confirmed by RNA studies. This variant has a maximum frequency of 0.016% in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). To our knowledge, this variant has not been reported in individuals with Noonan syndrome or schwannomatosis. 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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