Submissions for variant NM_006767.4(LZTR1):c.901G>C (p.Gly301Arg)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003236563	SCV003933852	uncertain significance	not specified	2023-05-15	criteria provided, single submitter	clinical testing	Variant summary: LZTR1 c.901G>C (p.Gly301Arg) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 183268 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.901G>C in individuals affected with Noonan Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.
Ambry Genetics	RCV004560155	SCV005048066	uncertain significance	Hereditary cancer-predisposing syndrome; Cardiovascular phenotype	2023-07-16	criteria provided, single submitter	clinical testing	The p.G301R variant (also known as c.901G>C), located in coding exon 9 of the LZTR1 gene, results from a G to C substitution at nucleotide position 901. The glycine at codon 301 is replaced by arginine, an amino acid with dissimilar 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	RCV004572891	SCV005060678	uncertain significance	Schwannomatosis 2	2023-12-22	criteria provided, single submitter	clinical testing