ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.2978G>A (p.Arg993His)

gnomAD frequency: 0.00003  dbSNP: rs370713742
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000456321 SCV000541409 uncertain significance Werner syndrome 2024-09-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 993 of the WRN protein (p.Arg993His). This variant is present in population databases (rs370713742, gnomAD 0.01%). This missense change has been observed in individual(s) with WRN-related conditions (PMID: 36964972). ClinVar contains an entry for this variant (Variation ID: 135427). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV000456321 SCV000895918 uncertain significance Werner syndrome 2018-10-31 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153404 SCV003843764 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
ITMI RCV000122284 SCV000086509 not provided not specified 2013-09-19 no assertion provided reference population
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579799 SCV001808560 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579799 SCV001967460 uncertain significance not provided no assertion criteria provided clinical testing

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