ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4380G>C (p.Glu1460Asp)

dbSNP: rs1558603894
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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 RCV000699932 SCV000828663 uncertain significance Neuroblastoma, susceptibility to, 3 2022-04-25 criteria provided, single submitter clinical testing Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 577237). This variant has not been reported in the literature in individuals affected with ALK-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1460 of the ALK protein (p.Glu1460Asp).

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