ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn) (rs369102740)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503966 SCV000595252 uncertain significance not specified 2016-12-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765477 SCV000896768 uncertain significance Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinemic hypoglycemia familial 5; Leprechaunism syndrome; Pineal hyperplasia AND diabetes mellitus syndrome 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001302076 SCV001491269 uncertain significance not provided 2017-06-02 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1259 of the INSR protein (p.Asp1259Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs369102740, ExAC 0.01%). This variant has not been reported in the literature in individuals with a INSR-related disease. In summary, this variant has uncertain impact on INSR function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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