ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4193C>G (p.Pro1398Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002327798 SCV002627071 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-12 criteria provided, single submitter clinical testing The p.P1398R variant (also known as c.4193C>G), located in coding exon 29 of the ALK gene, results from a C to G substitution at nucleotide position 4193. The proline at codon 1398 is replaced by arginine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003633623 SCV004513401 uncertain significance Neuroblastoma, susceptibility to, 3 2023-06-20 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1738587). 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. This variant has not been reported in the literature in individuals affected with ALK-related conditions. This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1398 of the ALK protein (p.Pro1398Arg). This variant is not present in population databases (gnomAD no frequency).

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