ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1353+5G>T

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003323018 SCV004027970 uncertain significance not provided 2023-02-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004560162 SCV005047271 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-08-08 criteria provided, single submitter clinical testing The c.1353+5G>T intronic variant results from a G to T substitution 5 nucleotides after coding exon 12 in the LZTR1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native 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 RCV004572928 SCV005060669 uncertain significance Schwannomatosis 2 2024-01-04 criteria provided, single submitter clinical testing

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