ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1127+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003809444 SCV004595456 likely pathogenic Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2023-10-13 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 13 of the STAT1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in STAT1 are known to be pathogenic (PMID: 22651901). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of STAT1-related conditions (PMID: 35976469). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of this splice site affects STAT1 function (PMID: 35976469). Studies have shown that disruption of this splice site is associated with altered splicing resulting in multiple RNA products (PMID: 35976469). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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