ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.2201_2208del (p.Val734fs)

dbSNP: rs1691780324
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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 RCV001040923 SCV001204515 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2020-02-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with STAT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the STAT1 gene (p.Val734Aspfs*64). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acids of the STAT1 protein and extend the protein by an additional 47 amino acids.

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