ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.55G>A (p.Gly19Ser)

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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 RCV002344887 SCV002648268 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-03-06 criteria provided, single submitter clinical testing The p.G19S variant (also known as c.55G>A), located in coding exon 1 of the LZTR1 gene, results from a G to A substitution at nucleotide position 55. The glycine at codon 19 is replaced by serine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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