ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter)

dbSNP: rs200628199
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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 RCV000722754 SCV002545737 likely pathogenic not provided 2022-04-01 criteria provided, single submitter clinical testing SLX4: PVS1:Strong, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV002533067 SCV003259058 pathogenic Fanconi anemia 2023-04-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 591573). This variant has not been reported in the literature in individuals affected with SLX4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1608*) in the SLX4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLX4 are known to be pathogenic (PMID: 21240277). For these reasons, this variant has been classified as Pathogenic.
PreventionGenetics, part of Exact Sciences RCV003411662 SCV004111213 likely pathogenic SLX4-related disorder 2022-12-13 criteria provided, single submitter clinical testing The SLX4 c.4823C>G variant is predicted to result in premature protein termination (p.Ser1608*). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SLX4 are expected to be pathogenic. This variant is interpreted as likely pathogenic.
Gharavi Laboratory, Columbia University RCV000722754 SCV000853885 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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