ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1943-326G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004561050 SCV005047447 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-08-10 criteria provided, single submitter clinical testing The c.1943-326G>A intronic variant results from a G to A substitution 326 nucleotides upstream from coding exon 17 in the LZTR1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of novel splice donor and acceptor sites, creating a cryptic exon within the intron; 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.

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