ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3281C>T (p.Pro1094Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476420 SCV004199806 uncertain significance Neuroblastoma, susceptibility to, 3 2023-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004634267 SCV005121270 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-27 criteria provided, single submitter clinical testing The p.P1094L variant (also known as c.3281C>T), located in coding exon 20 of the ALK gene, results from a C to T substitution at nucleotide position 3281. The proline at codon 1094 is replaced by leucine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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