ClinVar Miner

Submissions for variant NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu)

gnomAD frequency: 0.00004  dbSNP: rs559063155
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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 RCV001531943 SCV001747292 likely pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401412 SCV004120121 uncertain significance SF3B1-related disorder 2022-12-08 criteria provided, single submitter clinical testing The SF3B1 c.2098A>G variant is predicted to result in the amino acid substitution p.Lys700Glu. To our knowledge, this variant has not been reported in the literature in association with human disease. This variant is reported in 0.030% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-198266834-T-C). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Database of Curated Mutations (DoCM) RCV000420863 SCV000504635 likely pathogenic Acute myeloid leukemia 2014-10-02 no assertion criteria provided literature only
Druker Lab, Oregon Health and Sciences University RCV002291501 SCV002583832 pathogenic Chronic myelogenous leukemia, BCR-ABL1 positive 2022-10-10 no assertion criteria provided clinical testing

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