ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.652-116A>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003168018 SCV003861265 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-07-07 criteria provided, single submitter clinical testing The c.652-116A>G intronic variant results from an A to G substitution 116 nucleotides upstream from coding exon 8 in the LZTR1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will result in the creation or strengthening of a novel splice donor site; however, direct evidence is insufficient at this time (Ambry internal data). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003466030 SCV004193679 uncertain significance Schwannomatosis 2 2024-01-22 criteria provided, single submitter clinical testing

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