ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1652C>T (p.Pro551Leu)

gnomAD frequency: 0.00003  dbSNP: rs781107893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226962 SCV000285522 uncertain significance Werner syndrome 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 551 of the WRN protein (p.Pro551Leu). This variant is present in population databases (rs781107893, gnomAD 0.01%). This missense change has been observed in individual(s) with acute lymphocytic leukemia (PMID: 32359129). ClinVar contains an entry for this variant (Variation ID: 238125). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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 RCV000226962 SCV002799564 uncertain significance Werner syndrome 2022-05-17 criteria provided, single submitter clinical testing

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