ClinVar Miner

Submissions for variant NM_001379150.1(IRS4):c.1772dup (p.Lys592fs)

dbSNP: rs780982673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV000852284 SCV002102997 pathogenic Hypothyroidism, congenital, nongoitrous, 9 2021-06-21 criteria provided, single submitter clinical testing PVS1, PS1, PM2
GeneDx RCV003324804 SCV004030577 likely pathogenic not provided 2023-02-27 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 666 amino acids are replaced with 11 different amino acids; This variant is associated with the following publications: (PMID: 30061370, 33107432)
OMIM RCV000852284 SCV000994846 pathogenic Hypothyroidism, congenital, nongoitrous, 9 2019-09-26 no assertion criteria provided literature only

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