ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile)

dbSNP: rs1692619276
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001057504 SCV001222001 pathogenic Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 437 of the STAT1 protein (p.Thr437Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with chronic mucocutaneous candidiasis (PMID: 27808400; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 852805). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.

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