ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1166T>G (p.Val389Gly)

dbSNP: rs1692876152
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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 RCV001066865 SCV001231888 likely pathogenic Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2019-03-06 criteria provided, single submitter clinical testing 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. This variant disrupts the p.Val389 amino acid residue in STAT1. Other variant(s) that disrupt this residue have been observed in individuals with STAT1-related conditions (PMID: 27114460), which suggests that this may be a clinically significant amino acid residue. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed to be de novo in an individual affected with STAT1-related conditions (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 389 of the STAT1 protein (p.Val389Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine.

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