ClinVar Miner

Submissions for variant NM_020070.4(IGLL1):c.420T>C (p.Phe140=)

gnomAD frequency: 0.00135  dbSNP: rs1064423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757400 SCV000885604 likely benign not provided 2018-04-01 criteria provided, single submitter clinical testing The c.420T>C; p.Phe140Phe variant (rs1064423) does not alter the amino acid sequence of the IGLL1 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with antibody deficiency in medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.04% (identified on 106 out of 276,448 chromosomes). Based on the available information, the c.420T>C variant is likely to be benign.
Invitae RCV001089138 SCV001115032 likely benign Agammaglobulinemia 2, autosomal recessive 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000757400 SCV001746440 likely benign not provided 2021-04-01 criteria provided, single submitter clinical testing

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