ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3640C>T (p.Arg1214Cys)

gnomAD frequency: 0.00001  dbSNP: rs758172315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570349 SCV000672484 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-29 criteria provided, single submitter clinical testing The p.R1214C variant (also known as c.3640C>T), located in coding exon 23 of the ALK gene, results from a C to T substitution at nucleotide position 3640. The arginine at codon 1214 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002530324 SCV003515141 uncertain significance Neuroblastoma, susceptibility to, 3 2022-10-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 485083). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is present in population databases (rs758172315, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1214 of the ALK protein (p.Arg1214Cys).
Baylor Genetics RCV002530324 SCV004190547 uncertain significance Neuroblastoma, susceptibility to, 3 2023-06-14 criteria provided, single submitter clinical testing

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