ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2478C>T (p.Tyr826=)

gnomAD frequency: 0.00016  dbSNP: rs142126984
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229775 SCV000288328 likely benign Neuroblastoma, susceptibility to, 3 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565503 SCV000672463 likely benign Hereditary cancer-predisposing syndrome 2016-11-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000229775 SCV001299494 benign Neuroblastoma, susceptibility to, 3 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Sema4, Sema4 RCV000565503 SCV002528429 benign Hereditary cancer-predisposing syndrome 2020-11-30 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV000229775 SCV002808984 likely benign Neuroblastoma, susceptibility to, 3 2022-05-18 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000229775 SCV004016744 likely benign Neuroblastoma, susceptibility to, 3 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003417822 SCV004144038 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ALK: BP4, BP7

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