ClinVar Miner

Submissions for variant NM_002184.4(IL6ST):c.1549G>C (p.Ala517Pro)

gnomAD frequency: 0.00004  dbSNP: rs1381682599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV000787960 SCV000926983 uncertain significance GP130-deficient hyper-IgE syndrome 2019-01-23 criteria provided, single submitter clinical testing
Invitae RCV002536893 SCV002935775 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 636252). This missense change has been observed in individual(s) with autosomal recessive hyper-IgE syndrome (PMID: 33771552). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 517 of the IL6ST protein (p.Ala517Pro).
OMIM RCV001838638 SCV002098412 pathogenic Hyper-IgE recurrent infection syndrome 4, autosomal recessive 2023-10-05 no assertion criteria provided literature only

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