ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2500G>A (p.Ala834Thr)

gnomAD frequency: 0.00001  dbSNP: rs894106897
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001969597 SCV002265177 uncertain significance not provided 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 834 of the LZTR1 protein (p.Ala834Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1473710). 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 with a negative predictive value of 80%. 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.
Ambry Genetics RCV002425355 SCV002741907 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-12-07 criteria provided, single submitter clinical testing The p.A834T variant (also known as c.2500G>A), located in coding exon 21 of the LZTR1 gene, results from a G to A substitution at nucleotide position 2500. The alanine at codon 834 is replaced by threonine, an amino acid with similar properties. This amino acid position is highly 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.
Baylor Genetics RCV004571867 SCV005060626 uncertain significance Schwannomatosis 2 2024-02-26 criteria provided, single submitter clinical testing

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