ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2101C>T (p.Pro701Ser)

gnomAD frequency: 0.00001  dbSNP: rs1215936951
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998903 SCV002269742 uncertain significance not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 701 of the LZTR1 protein (p.Pro701Ser). This variant is not present in population databases (gnomAD no frequency). 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: 1483699). 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. 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.
GeneDx RCV001998903 SCV002577039 uncertain significance not provided 2022-09-28 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002423192 SCV002724553 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-12-16 criteria provided, single submitter clinical testing The p.P701S variant (also known as c.2101C>T), located in coding exon 18 of the LZTR1 gene, results from a C to T substitution at nucleotide position 2101. The proline at codon 701 is replaced by serine, an amino acid with 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 RCV003464358 SCV004191203 uncertain significance Schwannomatosis 2 2023-10-23 criteria provided, single submitter clinical testing

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