ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2754A>T (p.Arg918Ser)

gnomAD frequency: 0.00044  dbSNP: rs770236199
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817406 SCV000957963 uncertain significance Neuroblastoma, susceptibility to, 3 2024-12-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 918 of the ALK protein (p.Arg918Ser). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 660252). 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 RCV002433994 SCV002751936 uncertain significance Hereditary cancer-predisposing syndrome 2025-01-15 criteria provided, single submitter clinical testing The c.2754A>T (p.R918S) alteration is located in exon 16 (coding exon 16) of the ALK gene. This alteration results from a A to T substitution at nucleotide position 2754, causing the arginine (R) at amino acid position 918 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000817406 SCV004198072 uncertain significance Neuroblastoma, susceptibility to, 3 2023-11-24 criteria provided, single submitter clinical testing
GeneDx RCV004720005 SCV005326051 uncertain significance not provided 2023-11-13 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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