ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1260+5G>C

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003470007 SCV004191210 uncertain significance Schwannomatosis 2 2023-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004560174 SCV005047239 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-11-16 criteria provided, single submitter clinical testing The c.1260+5G>C intronic variant results from a G to C substitution 5 nucleotides after coding exon 11 in the LZTR1 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004784158 SCV005396346 uncertain significance not provided 2024-05-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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