ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1183C>T (p.Arg395Cys)

dbSNP: rs779282861
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000542876 SCV000648599 likely benign Neuroblastoma, susceptibility to, 3 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000542876 SCV000897006 uncertain significance Neuroblastoma, susceptibility to, 3 2018-10-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002255453 SCV002528380 likely benign Hereditary cancer-predisposing syndrome 2021-11-25 criteria provided, single submitter curation
Ambry Genetics RCV002255453 SCV002635951 likely benign Hereditary cancer-predisposing syndrome 2022-01-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV004772982 SCV005387182 uncertain significance not provided 2024-04-26 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27397505, 25714698, 35865984)

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