ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1528C>T (p.Arg510Trp)

gnomAD frequency: 0.00013  dbSNP: rs201449759
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000532921 SCV000648615 likely benign Neuroblastoma, susceptibility to, 3 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV004719868 SCV005325509 uncertain significance not provided 2023-09-25 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in a pediatric T-cell acute lymphoblastic leukemia patient (PMID: 31721781); This variant is associated with the following publications: (PMID: 31721781)
Ambry Genetics RCV004948439 SCV005596502 benign Hereditary cancer-predisposing syndrome 2024-08-20 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV003900208 SCV004717681 likely benign ALK-related disorder 2020-12-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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