ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3823C>T (p.Arg1275Ter)

dbSNP: rs543620241
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693511 SCV000821382 uncertain significance Neuroblastoma, susceptibility to, 3 2023-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1275*) in the ALK gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in ALK cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 572189). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001021230 SCV001182817 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-02 criteria provided, single submitter clinical testing The p.R1275* variant (also known as c.3823C>T), located in coding exon 25 of the ALK gene, results from a C to T substitution at nucleotide position 3823. This changes the amino acid from an arginine to a stop codon within coding exon 25. This alteration is expected to result in premature protein truncation or nonsense-mediated mRNA decay. However, loss of function of ALK has not been clearly established as a mechanism of disease. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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