ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.310C>T (p.Pro104Ser)

gnomAD frequency: 0.00026  dbSNP: rs576431612
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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 RCV000229111 SCV000288342 likely benign Neuroblastoma, susceptibility to, 3 2025-02-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000229111 SCV000895459 uncertain significance Neuroblastoma, susceptibility to, 3 2018-10-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257559 SCV002528459 benign Hereditary cancer-predisposing syndrome 2021-12-09 criteria provided, single submitter curation
GeneDx RCV002307461 SCV002601367 uncertain significance not provided 2025-01-22 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
Ambry Genetics RCV002257559 SCV002607985 likely benign Hereditary cancer-predisposing syndrome 2022-01-18 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.

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