ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.1755C>T (p.Ala585=)

gnomAD frequency: 0.00032  dbSNP: rs373605278
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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 RCV000228838 SCV000288319 likely benign Neuroblastoma, susceptibility to, 3 2025-01-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256159 SCV002528403 benign Hereditary cancer-predisposing syndrome 2021-03-19 criteria provided, single submitter curation
Ambry Genetics RCV002256159 SCV002714321 likely benign Hereditary cancer-predisposing syndrome 2022-02-13 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.
CeGaT Center for Human Genetics Tuebingen RCV003422146 SCV004144040 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing ALK: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003947776 SCV004766244 likely benign ALK-related disorder 2021-05-11 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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