ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3186G>A (p.Lys1062=)

gnomAD frequency: 0.00001  dbSNP: rs1374146241
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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 RCV001404109 SCV001605999 likely benign Neuroblastoma, susceptibility to, 3 2022-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004950029 SCV005593976 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-09 criteria provided, single submitter clinical testing The c.3186G>A variant (also known as p.K1062K), located in coding exon 20 of the ALK gene, results from a G to A substitution at nucleotide position 3186. This nucleotide substitution does not change the lysine at codon 1062. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice acceptor site. Based on the available evidence, the clinical significance of this variant remains unclear.

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