ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1053G>C (p.Leu351Phe)

dbSNP: rs1064794955
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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 RCV001042657 SCV001206354 uncertain significance Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2019-03-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 351 of the STAT1 protein (p.Leu351Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with chronic mucocutaneous candidiasis (PMID: 26732859, 27114460). This variant has been reported to affect STAT1 protein function (PMID: 26732859). 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.

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