ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.80G>C (p.Ser27Thr)

dbSNP: rs776383010
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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 RCV001988511 SCV002274540 uncertain significance not provided 2023-06-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs776383010, gnomAD 0.01%). 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: 1488297). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 27 of the LZTR1 protein (p.Ser27Thr).
Ambry Genetics RCV002423198 SCV002677665 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-09-28 criteria provided, single submitter clinical testing The p.S27T variant (also known as c.80G>C), located in coding exon 1 of the LZTR1 gene, results from a G to C substitution at nucleotide position 80. The serine at codon 27 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 RCV003471233 SCV004191227 uncertain significance Schwannomatosis 2 2023-10-15 criteria provided, single submitter clinical testing

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