ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1717T>C (p.Ser573Pro)

gnomAD frequency: 0.00001  dbSNP: rs1269824662
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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 RCV001936141 SCV002202889 uncertain significance not provided 2024-01-14 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 573 of the LZTR1 protein (p.Ser573Pro). 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: 1428117). 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 RCV002397932 SCV002713597 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-01-04 criteria provided, single submitter clinical testing The p.S573P variant (also known as c.1717T>C), located in coding exon 15 of the LZTR1 gene, results from a T to C substitution at nucleotide position 1717. The serine at codon 573 is replaced by proline, 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 RCV003471071 SCV004191271 uncertain significance Schwannomatosis 2 2023-09-06 criteria provided, single submitter clinical testing

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