ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3923C>T (p.Ser1308Phe)

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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 RCV002659273 SCV002989007 uncertain significance Neuroblastoma, susceptibility to, 3 2022-10-06 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. 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 serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 1308 of the ALK protein (p.Ser1308Phe).
Baylor Genetics RCV002659273 SCV005057540 uncertain significance Neuroblastoma, susceptibility to, 3 2024-03-21 criteria provided, single submitter clinical testing

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