ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2339C>G (p.Ala780Gly)

dbSNP: rs759983066
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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 RCV001923861 SCV002187643 uncertain significance not provided 2023-09-29 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: 1421847). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is present in population databases (rs759983066, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 780 of the LZTR1 protein (p.Ala780Gly).
Ambry Genetics RCV002442871 SCV002732591 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-12-28 criteria provided, single submitter clinical testing The p.A780G variant (also known as c.2339C>G), located in coding exon 20 of the LZTR1 gene, results from a C to G substitution at nucleotide position 2339. The alanine at codon 780 is replaced by glycine, 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 deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004571623 SCV005060604 uncertain significance Schwannomatosis 2 2024-03-21 criteria provided, single submitter clinical testing

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