ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1162A>C (p.Lys388Gln)

dbSNP: rs1559011859
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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 RCV000701663 SCV000830475 pathogenic Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2022-11-08 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 388 of the STAT1 protein (p.Lys388Gln). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Lys388Glu amino acid residue in STAT1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25042743; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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"). ClinVar contains an entry for this variant (Variation ID: 578600). This missense change has been observed in individual(s) with clinical features of STAT1 gain-of-function associated chronic mucocutaneous candidiasis (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency).

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