ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2781G>T (p.Gly927=)

gnomAD frequency: 0.00001  dbSNP: rs1264537420
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506598 SCV001711523 likely benign Neuroblastoma, susceptibility to, 3 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169183 SCV003898133 likely benign Hereditary cancer-predisposing syndrome 2022-11-26 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 RCV004721665 SCV005327500 uncertain significance not provided 2023-09-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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