ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.14G>A (p.Gly5Asp)

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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 RCV002389895 SCV002701453 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-07-19 criteria provided, single submitter clinical testing The p.G5D variant (also known as c.14G>A), located in coding exon 1 of the LZTR1 gene, results from a G to A substitution at nucleotide position 14. The glycine at codon 5 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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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