ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2498G>A (p.Arg833Gln)

gnomAD frequency: 0.00001  dbSNP: rs777565396
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597551 SCV000708976 uncertain significance not provided 2018-06-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765479 SCV000896770 uncertain significance Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome 2021-11-30 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003884654 SCV004698154 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 rs777565396 with early onset diabetes mellitus is yet to be ascertained.

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