ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)

dbSNP: rs775854644
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502540 SCV000595251 uncertain significance not specified 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857113 SCV002201695 uncertain significance not provided 2021-09-20 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 435516). This variant has not been reported in the literature in individuals affected with INSR-related conditions. This variant is present in population databases (rs775854644, ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 1137 of the INSR protein (p.Ile1137Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.
Fulgent Genetics, Fulgent Genetics RCV002476006 SCV002778981 uncertain significance Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome 2021-12-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001857113 SCV003815637 uncertain significance not provided 2021-02-02 criteria provided, single submitter clinical testing

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