ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.2926C>T (p.His976Tyr)

dbSNP: rs1664022542
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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 RCV001047565 SCV001211530 uncertain significance Neuroblastoma, susceptibility to, 3 2019-01-23 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 976 of the ALK protein (p.His976Tyr). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and tyrosine. This variant has not been reported in the literature in individuals with ALK-related conditions. 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.

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