ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1967A>G (p.Lys656Arg)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002423408 SCV002721257 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-02-06 criteria provided, single submitter clinical testing The p.K656R variant (also known as c.1967A>G), located in coding exon 17 of the LZTR1 gene, results from an A to G substitution at nucleotide position 1967. The lysine at codon 656 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100971 SCV003519426 uncertain significance not provided 2023-08-16 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. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 656 of the LZTR1 protein (p.Lys656Arg). 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: 1783536). 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.
Baylor Genetics RCV003465745 SCV004191198 uncertain significance Schwannomatosis 2 2023-10-25 criteria provided, single submitter clinical testing

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