ClinVar Miner

Submissions for variant NM_007315.4(STAT1):c.1582+7G>A

gnomAD frequency: 0.00005  dbSNP: rs762378892
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002238630 SCV002511787 uncertain significance not specified 2024-03-28 criteria provided, single submitter clinical testing Variant summary: STAT1 c.1582+7G>A alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.8e-05 in 251448 control chromosomes. This frequency does not allow for any conclusion about variant significance. To our knowledge, no occurrence of c.1582+7G>A in individuals affected with Immunodeficiency 31a and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1683335). Based on the evidence outlined above, the variant was classified as uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV003093922 SCV003509412 likely benign Immunodeficiency 31B; Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 2022-08-07 criteria provided, single submitter clinical testing

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