ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.550+7C>T

gnomAD frequency: 0.00003  dbSNP: rs771507023
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027846 SCV001190468 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2019-09-09 criteria provided, single submitter clinical testing STAT5B NM_012448.3 exon 5 c.550+7C>T: This variant has not been reported in the literature but is present in 0.009% (3/30614) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/17-40375393-G-A). This variant is present in ClinVar (Variation ID: 534582). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003227894 SCV003924250 uncertain significance Growth hormone insensitivity with immune dysregulation 1, autosomal recessive; Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 2021-03-30 criteria provided, single submitter clinical testing STAT5B NM_012448.3 exon 5 c.550+7C>T: This variant has not been reported in the literature but is present in 0.009% (3/30614) of South Asian alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/17-40375393-G-A). This variant is present in ClinVar (Variation ID: 534582). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant; splice prediction tools suggest that this variant may affect splicing. However, further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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