ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.3610G>A (p.Ala1204Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV004720193 SCV005326327 likely pathogenic Hyperinsulinism due to INSR deficiency criteria provided, single submitter clinical testing This variant has been reported in the medical literature in one individual with Rabson-Mendenhall syndrome (MIM: 262190; RMS) (PMID: 22876563, PMID: 31677333). This individual carried the p.Ala1204Thr variant in trans with an additional INSR variant. His mother was found to be a heterozygous carrier of the p.Ala1204Thr variant and did not have a known metabolic or endocrine disorder (PMID: 22876563).

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