ClinVar Miner

Submissions for variant NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)

gnomAD frequency: 0.00016  dbSNP: rs281865548
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics and Genomics, Karolinska University Hospital RCV001269522 SCV001449566 likely pathogenic not provided 2015-01-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001269522 SCV001536251 uncertain significance not provided 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 398 of the WRAP53 protein (p.Arg398Trp). This variant is present in population databases (rs281865548, gnomAD 0.3%). This missense change has been observed in individual(s) with clinical features of Hoyeraal Hreidarsson syndrome or dyskeratosis congenita (PMID: 21205863, 32303682). ClinVar contains an entry for this variant (Variation ID: 30975). 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, 32303682). 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.
Hauer Lab, Department Of Pediatric Oncology, Technical University Munich RCV003445082 SCV004174258 pathogenic Hereditary cancer-predisposing syndrome criteria provided, single submitter research ACMG/AMP, PVS1, PM2
Fulgent Genetics, Fulgent Genetics RCV000023966 SCV005651087 likely pathogenic Dyskeratosis congenita, autosomal recessive 3 2023-12-28 criteria provided, single submitter clinical testing
OMIM RCV000023966 SCV000045257 pathogenic Dyskeratosis congenita, autosomal recessive 3 2011-01-01 no assertion criteria provided literature only
GeneReviews RCV000023966 SCV000058087 not provided Dyskeratosis congenita, autosomal recessive 3 no assertion provided literature only

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