ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.62G>C (p.Arg21Pro)

dbSNP: rs1469540056
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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 RCV004559643 SCV005048000 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-08-29 criteria provided, single submitter clinical testing The p.R21P variant (also known as c.62G>C), located in coding exon 1 of the LZTR1 gene, results from a G to C substitution at nucleotide position 62. The arginine at codon 21 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000736157 SCV000864454 likely pathogenic Short stature 2001-11-18 no assertion criteria provided case-control

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