ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2687T>C (p.Leu896Ser)

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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 RCV003857536 SCV004662495 uncertain significance Neuroblastoma, susceptibility to, 3 2023-12-31 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 896 of the ALK protein (p.Leu896Ser). 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. 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.
Ambry Genetics RCV004950738 SCV005591347 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-04 criteria provided, single submitter clinical testing The p.L896S variant (also known as c.2687T>C), located in coding exon 16 of the ALK gene, results from a T to C substitution at nucleotide position 2687. The leucine at codon 896 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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