ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) (rs61754865)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226467 SCV000288330 benign Neuroblastoma 3 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000119968 SCV000570138 uncertain significance not specified 2016-05-02 criteria provided, single submitter clinical testing This variant is denoted ALK c.2577G>C at the cDNA level, p.Glu859Asp (E859D) at the protein level, and results in the change of a Glutamic Acid to an Aspartic Acid (GAG>GAC). This variant was identified in 1/43 healthy African individuals undergoing whole genome sequencing (Bodian 2014). Of note, the participants in this study were younger than 50 years old thus the unaffected status of this individual may not be significant. ALK Glu859Asp was observed with an allele frequency of 0.2% (10/4406) in African Americans in the NHLBI Exome Sequencing Project. Since Glutamic Acid and Aspartic Acid share similar properties, this is considered a conservative amino acid substitution. ALK Glu859Asp occurs at a position that is conserved across species and is located in a Glycine rich region (UniProt). In silico analyses predict that this variant is probably damaging to protein structure and function. Based on currently available evidence, it is unclear whether ALK Glu859Asp is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
ITMI RCV000119968 SCV000084098 not provided not specified 2013-09-19 no assertion provided reference population

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