ClinVar Miner

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

gnomAD frequency: 0.00007  dbSNP: rs369102740
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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 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; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp 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.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003884579 SCV004698148 uncertain risk allele Hyperinsulinism due to INSR deficiency criteria provided, single submitter research Potent mutations in INSR gene can lead to insulin resistance, which presents as impaired glucose tolerance, early onset type 2 diabetes, post prandial hyperglycemia and increased insulin requirement in type 1 diabetes. These mutations in INSR gene can also predispose to coronary artery disease, metabolic syndrome, polycystic ovarian disease and non alcoholic fatty liver disease.However, the role of this particular variant rs369102740 with early onset diabetes mellitus is yet to be ascertained.

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