ClinVar Miner

Submissions for variant NM_020070.4(IGLL1):c.437C>T (p.Thr146Met)

gnomAD frequency: 0.00100  dbSNP: rs112775194
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660488 SCV000782587 uncertain significance Agammaglobulinemia 2, autosomal recessive 2017-01-10 criteria provided, single submitter clinical testing
Invitae RCV000660488 SCV001096809 likely benign Agammaglobulinemia 2, autosomal recessive 2024-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000660488 SCV001477618 uncertain significance Agammaglobulinemia 2, autosomal recessive 2023-10-02 criteria provided, single submitter clinical testing The IGLL1 c.437C>T, p.Thr146Met variant (rs112775194), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 547919). This variant is found in the East Asian population with an allele frequency of 0.5% (91/19,954 alleles) in the Genome Aggregation Database. The threonine at codon 146 is weakly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Due to limited information, the clinical significance of the p.Thr146Met variant is uncertain at this time.
CeGaT Center for Human Genetics Tuebingen RCV003884699 SCV004701438 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing IGLL1: BP4, BS2

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