ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3744-5C>T

gnomAD frequency: 0.00001  dbSNP: rs750800690
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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 RCV002209132 SCV002354213 likely benign Neuroblastoma, susceptibility to, 3 2023-02-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002346382 SCV002621947 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-12 criteria provided, single submitter clinical testing The c.3744-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 25 in the ALK gene. This nucleotide position is poorly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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