ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1382C>A (p.Ala461Asp)

dbSNP: rs1569156890
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre, University of Oxford RCV000754924 SCV000787759 uncertain significance Noonan syndrome 2 2018-07-02 criteria provided, single submitter research
Ambry Genetics RCV004559340 SCV005047281 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-03-16 criteria provided, single submitter clinical testing The p.A461D variant (also known as c.1382C>A), located in coding exon 13 of the LZTR1 gene, results from a C to A substitution at nucleotide position 1382. The alanine at codon 461 is replaced by aspartic acid, an amino acid with dissimilar properties. This alteration was detected in trans with another LZTR1 missense alteration (c.1385T>C; p.I462T) in a patient with cardiac hypertrophy and a Noonan syndrome-like appearance (Pagnamenta AT et al. Clin Genet, 2019 Jun;95:693-703). This amino acid position is well conserved in available vertebrate species. 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.

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