ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2667G>C (p.Leu889Phe)

dbSNP: rs1664104202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001204242 SCV001375441 uncertain significance Neuroblastoma, susceptibility to, 3 2022-10-03 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 889 of the ALK protein (p.Leu889Phe). 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: 935609). 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 tolerated. 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.
Ambry Genetics RCV002436785 SCV002744851 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-29 criteria provided, single submitter clinical testing The p.L889F variant (also known as c.2667G>C), located in coding exon 16 of the ALK gene, results from a G to C substitution at nucleotide position 2667. The leucine at codon 889 is replaced by phenylalanine, 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.

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