ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1349G>C (p.Gly450Ala)

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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 RCV004995502 SCV005617352 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-08-02 criteria provided, single submitter clinical testing The p.G450A variant (also known as c.1349G>C), located in coding exon 12 of the LZTR1 gene, results from a G to C substitution at nucleotide position 1349. The glycine at codon 450 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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