ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2437A>C (p.Ser813Arg)

gnomAD frequency: 0.00001  dbSNP: rs1311281590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001294017 SCV001482776 uncertain significance Noonan syndrome 10 2019-07-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001863178 SCV002136148 uncertain significance not provided 2021-06-02 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with LZTR1-related conditions. ClinVar contains an entry for this variant (Variation ID: 998255). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 813 of the LZTR1 protein (p.Ser813Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine.
Ambry Genetics RCV004557507 SCV005047882 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-11-03 criteria provided, single submitter clinical testing The p.S813R variant (also known as c.2437A>C), located in coding exon 21 of the LZTR1 gene, results from an A to C substitution at nucleotide position 2437. The serine at codon 813 is replaced by arginine, an amino acid with dissimilar 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.

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