ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3855G>T (p.Lys1285Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002306167 SCV002599917 uncertain significance not provided 2022-05-03 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002363762 SCV002623688 uncertain significance Hereditary cancer-predisposing syndrome 2023-02-07 criteria provided, single submitter clinical testing The p.K1285N variant (also known as c.3855G>T), located in coding exon 26 of the ALK gene, results from a G to T substitution at nucleotide position 3855. The lysine at codon 1285 is replaced by asparagine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098041 SCV003513970 uncertain significance Neuroblastoma, susceptibility to, 3 2024-04-15 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1285 of the ALK protein (p.Lys1285Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 1723060). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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