ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2546A>G (p.Tyr849Cys)

dbSNP: rs1043717591
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647473 SCV000769269 uncertain significance Neuroblastoma, susceptibility to, 3 2023-06-09 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 538264). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 849 of the ALK protein (p.Tyr849Cys).
Ambry Genetics RCV004025739 SCV005021468 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-25 criteria provided, single submitter clinical testing The p.Y849C variant (also known as c.2546A>G), located in coding exon 15 of the ALK gene, results from an A to G substitution at nucleotide position 2546. The tyrosine at codon 849 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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