ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1444G>A (p.Ala482Thr)

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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 RCV002394430 SCV002699384 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-09-25 criteria provided, single submitter clinical testing The p.A482T variant (also known as c.1444G>A), located in coding exon 13 of the LZTR1 gene, results from a G to A substitution at nucleotide position 1444. The alanine at codon 482 is replaced by threonine, 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.
Fulgent Genetics, Fulgent Genetics RCV005025816 SCV005656753 uncertain significance Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 2024-06-21 criteria provided, single submitter clinical testing

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