ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.44C>T (p.Ser15Phe)

dbSNP: rs770134645
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001036609 SCV001199982 uncertain significance Neuroblastoma, susceptibility to, 3 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 15 of the ALK protein (p.Ser15Phe). 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 835668). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This variant is present in population databases (rs770134645, gnomAD 0.01%).

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