ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3085C>G (p.Pro1029Ala)

gnomAD frequency: 0.00018  dbSNP: rs543328121
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000344220 SCV000429937 likely benign Neuroblastoma, susceptibility to, 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000344220 SCV001643657 likely benign Neuroblastoma, susceptibility to, 3 2024-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256211 SCV002528455 likely benign Hereditary cancer-predisposing syndrome 2021-10-22 criteria provided, single submitter curation
Ambry Genetics RCV002256211 SCV002608729 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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