Submissions for variant NM_012448.4(STAT5B):c.551-5T>C

gnomAD frequency: 0.00188  dbSNP: rs200299299

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000642187	SCV000763841	benign	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	2023-12-07	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV000642187	SCV000899002	uncertain significance	Growth hormone insensitivity with immune dysregulation 1, autosomal recessive	2018-11-12	criteria provided, single submitter	clinical testing	STAT5B NM_012448.3 exon 6 c.551-5T>C: This variant has not been reported in the literature but is present in 0.3% (398/128974) of European alleles, including 3 homozygotes, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/17-40371865-A-G). This variant is present in ClinVar (Variation ID:534583). 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 not 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	RCV003227816	SCV003924249	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 6 c.551-5T>C: This variant has not been reported in the literature but is present in 0.3% (398/128974) of European alleles, including 3 homozygotes, in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/17-40371865-A-G). This variant is present in ClinVar (Variation ID:534583). 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 not 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.
CeGaT Center for Human Genetics Tuebingen	RCV001572970	SCV004138359	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	STAT5B: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001572970	SCV001798155	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001572970	SCV001966197	likely benign	not provided		no assertion criteria provided	clinical testing