ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1085T>C (p.Ile362Thr)

dbSNP: rs1265733958
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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 RCV001302450 SCV001491660 uncertain significance Neuroblastoma, susceptibility to, 3 2024-03-14 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 362 of the ALK protein (p.Ile362Thr). 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: 1005559). 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 tolerated. 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 RCV002430104 SCV002728599 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-04 criteria provided, single submitter clinical testing The p.I362T variant (also known as c.1085T>C), located in coding exon 4 of the ALK gene, results from a T to C substitution at nucleotide position 1085. The isoleucine at codon 362 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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