ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3158C>T (p.Ser1053Phe)

dbSNP: rs1663940716
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066377 SCV001231384 uncertain significance Neuroblastoma, susceptibility to, 3 2019-03-06 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ALK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 1053 of the ALK protein (p.Ser1053Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine.

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