ClinVar Miner

Submissions for variant NM_001319074.4(RAX2):c.260G>A (p.Arg87Gln)

gnomAD frequency: 0.00019  dbSNP: rs121908280
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000001299 SCV001282831 uncertain significance Age related macular degeneration 6 2017-08-20 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001236861 SCV001409600 uncertain significance not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 87 of the RAX2 protein (p.Arg87Gln). This variant is present in population databases (rs121908280, gnomAD 0.02%). This missense change has been observed in individual(s) with age-related macular degeneration (PMID: 15028672). ClinVar contains an entry for this variant (Variation ID: 1240). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects RAX2 function (PMID: 15028672). 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.
OMIM RCV000001299 SCV000021449 pathogenic Age related macular degeneration 6 2004-05-15 no assertion criteria provided literature only

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