ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.295G>A (p.Asp99Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003318258 SCV004021814 uncertain significance not provided 2023-01-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004560161 SCV005047916 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-01-17 criteria provided, single submitter clinical testing The p.D99N variant (also known as c.295G>A), located in coding exon 3 of the LZTR1 gene, results from a G to A substitution at nucleotide position 295. The aspartic acid at codon 99 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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