ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg)

gnomAD frequency: 0.00001  dbSNP: rs281865550
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556106 SCV004296724 uncertain significance not provided 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 435 of the WRAP53 protein (p.Gly435Arg). This variant is present in population databases (rs281865550, gnomAD 0.01%). This missense change has been observed in individual(s) with clinical features of dyskeratosis congenita (PMID: 21205863, 30552426). ClinVar contains an entry for this variant (Variation ID: 41251). 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 WRAP53 function (PMID: 21205863). 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 RCV000034151 SCV000045259 pathogenic Dyskeratosis congenita, autosomal recessive 3 2011-01-01 no assertion criteria provided literature only
GeneReviews RCV000034151 SCV000058088 not provided Dyskeratosis congenita, autosomal recessive 3 no assertion provided literature only

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