ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3458C>G (p.Pro1153Arg)

dbSNP: rs917295547
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238443 SCV002009880 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001761555 SCV002270662 uncertain significance Neuroblastoma, susceptibility to, 3 2024-05-16 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1153 of the ALK protein (p.Pro1153Arg). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 1319120). 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 RCV004946738 SCV005590086 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-19 criteria provided, single submitter clinical testing The p.P1153R variant (also known as c.3458C>G), located in coding exon 22 of the ALK gene, results from a C to G substitution at nucleotide position 3458. The proline at codon 1153 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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