ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3839C>T (p.Ala1280Val)

gnomAD frequency: 0.00001  dbSNP: rs74716434
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000318323 SCV000429928 likely benign Neuroblastoma Susceptibility 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000540430 SCV000648719 uncertain significance Neuroblastoma, susceptibility to, 3 2024-11-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1280 of the ALK protein (p.Ala1280Val). This variant is present in population databases (rs74716434, gnomAD 0.006%). 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: 335691). 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 RCV000569836 SCV000672481 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-06 criteria provided, single submitter clinical testing The p.A1280V variant (also known as c.3839C>T), located in coding exon 26 of the ALK gene, results from a C to T substitution at nucleotide position 3839. The alanine at codon 1280 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Sema4, Sema4 RCV000569836 SCV002528493 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-11 criteria provided, single submitter curation
GeneDx RCV003441844 SCV004168971 uncertain significance not provided 2023-04-06 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 28741662, 33435440)
Baylor Genetics RCV000540430 SCV004199373 uncertain significance Neuroblastoma, susceptibility to, 3 2023-09-08 criteria provided, single submitter clinical testing

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