ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1628A>G (p.Asp543Gly)

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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 RCV004560990 SCV005047352 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-11-29 criteria provided, single submitter clinical testing The p.D543G variant (also known as c.1628A>G), located in coding exon 15 of the LZTR1 gene, results from an A to G substitution at nucleotide position 1628. The aspartic acid at codon 543 is replaced by glycine, an amino acid with similar 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 RCV004573496 SCV005060682 uncertain significance Schwannomatosis 2 2023-12-19 criteria provided, single submitter clinical testing

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