ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.457G>T (p.Gly153Cys)

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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 RCV004576799 SCV005060538 uncertain significance Neuroblastoma, susceptibility to, 3 2023-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV004634421 SCV005121214 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-02 criteria provided, single submitter clinical testing The p.G153C variant (also known as c.457G>T), located in coding exon 1 of the ALK gene, results from a G to T substitution at nucleotide position 457. The glycine at codon 153 is replaced by cysteine, an amino acid with highly dissimilar 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 variant remains unclear.

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