ClinVar Miner

Submissions for variant NM_000553.6(WRN):c.130C>G (p.Leu44Val)

gnomAD frequency: 0.00031  dbSNP: rs139775895
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000470096 SCV000541428 likely benign Werner syndrome 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000470096 SCV000895914 uncertain significance Werner syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001591059 SCV001816864 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with head and neck cancer (Cury et al., 2021); This variant is associated with the following publications: (PMID: 30404791, 30019023, 29641532, 32041611, 34598035)
Baylor Genetics RCV000470096 SCV004208903 uncertain significance Werner syndrome 2022-04-27 criteria provided, single submitter clinical testing

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