ClinVar Miner

Submissions for variant NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg)

dbSNP: rs121918649
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV001004904 SCV001164404 uncertain significance Hereditary spherocytosis type 2 2018-12-03 criteria provided, single submitter research The heterozygous p.Leu2025Arg variant in SPTB was identified by our study in one individual with spherocytosis. This variant was absent from large population studies. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Leu2025Arg variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3 (Richards 2015).
Revvity Omics, Revvity RCV003129752 SCV003817195 likely pathogenic not provided 2023-01-26 criteria provided, single submitter clinical testing
OMIM RCV000013691 SCV000033938 pathogenic ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL 1995-03-01 no assertion criteria provided literature only

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