ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.44C>T (p.Ala15Val)

dbSNP: rs2147956758
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001844638 SCV002103820 uncertain significance not specified 2022-02-05 criteria provided, single submitter clinical testing
Invitae RCV001869868 SCV002301547 uncertain significance not provided 2021-09-30 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with LZTR1-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 15 of the LZTR1 protein (p.Ala15Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine.
Ambry Genetics RCV002329774 SCV002636494 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-03-06 criteria provided, single submitter clinical testing The p.A15V variant (also known as c.44C>T), located in coding exon 1 of the LZTR1 gene, results from a C to T substitution at nucleotide position 44. The alanine at codon 15 is replaced by valine, an amino acid with similar properties. This amino acid position is poorly 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.

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