ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4148T>C (p.Ile1383Thr)

gnomAD frequency: 0.00001  dbSNP: rs1558606063
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698232 SCV000826884 uncertain significance Neuroblastoma, susceptibility to, 3 2023-12-17 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 1383 of the ALK protein (p.Ile1383Thr). This variant is not present in population databases (gnomAD no frequency). 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: 575890). 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 RCV003163225 SCV003898311 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-05 criteria provided, single submitter clinical testing The p.I1383T variant (also known as c.4148T>C), located in coding exon 28 of the ALK gene, results from a T to C substitution at nucleotide position 4148. The isoleucine at codon 1383 is replaced by threonine, an amino acid with similar 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.

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