ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3210G>A (p.Gln1070=)

gnomAD frequency: 0.00003  dbSNP: rs138178848
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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 RCV000647512 SCV000769308 likely benign Neuroblastoma, susceptibility to, 3 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV002307573 SCV002601210 uncertain significance not provided 2024-05-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002449064 SCV002611878 likely benign Hereditary cancer-predisposing syndrome 2022-03-07 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.
PreventionGenetics, part of Exact Sciences RCV003892468 SCV004715661 likely benign ALK-related disorder 2022-11-16 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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