ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)

gnomAD frequency: 0.00021  dbSNP: rs76077021
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000361037 SCV000333614 uncertain significance not provided 2015-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765478 SCV000896769 uncertain significance Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000361037 SCV002039055 uncertain significance not provided 2021-06-14 criteria provided, single submitter clinical testing Identified in a non-obese pregnant woman with a diabetes and reported as a variant of uncertain significance in published literature (Zubkova et al., 2019); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 30663027, 27535533)
Labcorp Genetics (formerly Invitae), Labcorp RCV000361037 SCV003278556 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004535276 SCV004120332 uncertain significance INSR-related disorder 2023-06-27 criteria provided, single submitter clinical testing The INSR c.2665C>T variant is predicted to result in the amino acid substitution p.Arg889Trp. This variant was reported as a variant of uncertain significance in an individual with gestational diabetes (Zubkova et al. 2019. PubMed ID: 30663027). This variant is reported in 0.034% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-7141705-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Breakthrough Genomics, Breakthrough Genomics RCV000361037 SCV005192523 uncertain significance not provided criteria provided, single submitter not provided

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