ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter)

gnomAD frequency: 0.00003  dbSNP: rs145028315
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086604 SCV000541879 likely benign Neuroblastoma, susceptibility to, 3 2024-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000657739 SCV000779490 uncertain significance not provided 2023-10-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not an established mechanism of disease; Observed in a patient with intraductal papillary mucinous neoplasm (Skaro M et al., 2019); This variant is associated with the following publications: (PMID: 30716324)
Ambry Genetics RCV001021020 SCV001182582 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-30 criteria provided, single submitter clinical testing The p.R1248* variant (also known as c.3742C>T), located in coding exon 24 of the ALK gene, results from a C to T substitution at nucleotide position 3742. This changes the amino acid from an arginine to a stop codon within coding exon 24. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, loss of function in 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.
Sema4, Sema4 RCV001021020 SCV002528490 likely benign Hereditary cancer-predisposing syndrome 2020-07-21 criteria provided, single submitter curation

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