ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1775G>C (p.Ser592Thr)

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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 RCV004995575 SCV005615343 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-10-25 criteria provided, single submitter clinical testing The p.S592T variant (also known as c.1775G>C), located in coding exon 15 of the LZTR1 gene, results from a G to C substitution at nucleotide position 1775. The serine at codon 592 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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