ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1616-8G>A

dbSNP: rs750618522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001965735 SCV002244890 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the LZTR1 gene. It does not directly change the encoded amino acid sequence of the LZTR1 protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1461195). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001965735 SCV003837267 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV004571755 SCV005060618 uncertain significance Schwannomatosis 2 2024-03-04 criteria provided, single submitter clinical testing

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