ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.2316C>G (p.Asn772Lys)

dbSNP: rs140327903
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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 RCV001985787 SCV002265532 uncertain significance not provided 2022-08-12 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1479794). This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 772 of the LZTR1 protein (p.Asn772Lys).
Ambry Genetics RCV002442982 SCV002734960 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-12-18 criteria provided, single submitter clinical testing The p.N772K variant (also known as c.2316C>G), located in coding exon 19 of the LZTR1 gene, results from a C to G substitution at nucleotide position 2316. The asparagine at codon 772 is replaced by lysine, 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 RCV003464349 SCV004191265 uncertain significance Schwannomatosis 2 2023-09-11 criteria provided, single submitter clinical testing

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