ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3076A>C (p.Thr1026Pro)

dbSNP: rs781515382
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803164 SCV000943026 uncertain significance Neuroblastoma, susceptibility to, 3 2020-12-31 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 tolerated, 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. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change replaces threonine with proline at codon 1026 of the ALK protein (p.Thr1026Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline.

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