ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.1578del (p.Leu528fs)

gnomAD frequency: 0.00002  dbSNP: rs780555196
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762505 SCV000892832 likely pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000796411 SCV000935923 pathogenic Werner syndrome 2024-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu528Cysfs*29) in the WRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WRN are known to be pathogenic (PMID: 16673358). This variant is present in population databases (rs780555196, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Werner syndrome (PMID: 27667302). ClinVar contains an entry for this variant (Variation ID: 624320). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000796411 SCV004208802 pathogenic Werner syndrome 2023-10-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000796411 SCV005676848 likely pathogenic Werner syndrome 2024-03-01 criteria provided, single submitter clinical testing

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