ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)

dbSNP: rs113994089
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000019711 SCV002241253 pathogenic Neuroblastoma, susceptibility to, 3 2021-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects ALK function (PMID: 21838707). 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. ClinVar contains an entry for this variant (Variation ID: 18085). This missense change has been observed in individual(s) with neuroblastoma (PMID: 18724359, 18923523, 24205241). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 1192 of the ALK protein (p.Arg1192Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline.
OMIM RCV000019711 SCV000040009 risk factor Neuroblastoma, susceptibility to, 3 2012-03-01 no assertion criteria provided literature only
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000019711 SCV000256818 pathogenic Neuroblastoma, susceptibility to, 3 2015-10-07 no assertion criteria provided clinical testing

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