ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr)

dbSNP: rs1924227635
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330295 SCV001521936 uncertain significance Noonan syndrome 10 2020-09-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001871810 SCV002269211 uncertain significance not provided 2023-03-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt LZTR1 protein function. ClinVar contains an entry for this variant (Variation ID: 1029085). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 20 of the LZTR1 protein (p.Ala20Thr).
Ambry Genetics RCV002357168 SCV002653647 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-11-24 criteria provided, single submitter clinical testing The p.A20T variant (also known as c.58G>A), located in coding exon 1 of the LZTR1 gene, results from a G to A substitution at nucleotide position 58. The alanine at codon 20 is replaced by threonine, an amino acid with similar properties. This amino acid position is 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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