ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2343C>G (p.Asp781Glu)

gnomAD frequency: 0.00001  dbSNP: rs763193690
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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 RCV001931512 SCV002198679 uncertain significance not provided 2023-01-30 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: 1430494). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is present in population databases (rs763193690, gnomAD 0.0009%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 781 of the LZTR1 protein (p.Asp781Glu).
Ambry Genetics RCV002425273 SCV002731869 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-04-14 criteria provided, single submitter clinical testing The p.D781E variant (also known as c.2343C>G), located in coding exon 20 of the LZTR1 gene, results from a C to G substitution at nucleotide position 2343. The aspartic acid at codon 781 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003471073 SCV004193655 uncertain significance Schwannomatosis 2 2023-05-24 criteria provided, single submitter clinical testing

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