ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr)

gnomAD frequency: 0.00028  dbSNP: rs201768549
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001087719 SCV000429925 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 RCV001087719 SCV000648735 likely benign Neuroblastoma, susceptibility to, 3 2024-12-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000731883 SCV000859751 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257416 SCV002528500 likely benign Hereditary cancer-predisposing syndrome 2021-11-12 criteria provided, single submitter curation
GeneDx RCV000731883 SCV003915302 uncertain significance not provided 2022-10-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Identified in healthy individuals undergoing whole genome sequencing (Bodian et al., 2014); This variant is associated with the following publications: (PMID: 24728327)
Ambry Genetics RCV002257416 SCV005589500 benign Hereditary cancer-predisposing syndrome 2024-06-25 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.
Fulgent Genetics, Fulgent Genetics RCV001087719 SCV005656226 likely benign Neuroblastoma, susceptibility to, 3 2024-06-13 criteria provided, single submitter clinical testing
ITMI RCV000119982 SCV000084112 not provided not specified 2013-09-19 no assertion provided reference population

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