ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.404G>C (p.Gly135Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003216359 SCV003911672 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-03-03 criteria provided, single submitter clinical testing The p.G135A variant (also known as c.404G>C), located in coding exon 5 of the LZTR1 gene, results from a G to C substitution at nucleotide position 404. The glycine at codon 135 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003459804 SCV004193623 uncertain significance Schwannomatosis 2 2023-07-06 criteria provided, single submitter clinical testing

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