ClinVar Miner

Submissions for variant NM_012448.4(STAT5B):c.424_427del (p.Leu142fs)

dbSNP: rs2144267361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001937990 SCV002178628 pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu142Argfs*20) in the STAT5B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAT5B are known to be pathogenic (PMID: 15827093). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with growth hormone insensitivity (PMID: 20538865). ClinVar contains an entry for this variant (Variation ID: 1408216). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001937990 SCV003807362 pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive 2022-10-12 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PM2 moderated, PM3 moderated

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