ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)

gnomAD frequency: 0.00036  dbSNP: rs78433961
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV000664155 SCV000787607 uncertain significance Monogenic diabetes 2017-03-10 criteria provided, single submitter research ACMG Criteria:BP4 (9 predictors)
Fulgent Genetics, Fulgent Genetics RCV000765480 SCV000896771 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
Illumina Laboratory Services, Illumina RCV001129802 SCV001289349 benign Insulin-resistant diabetes mellitus AND acanthosis nigricans 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001129803 SCV001289350 uncertain significance Leprechaunism syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001129804 SCV001289351 benign Rabson-Mendenhall syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002060806 SCV002383698 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530623 SCV003687476 uncertain significance Inborn genetic diseases 2021-11-03 criteria provided, single submitter clinical testing The c.2388G>C (p.R796S) alteration is located in exon 12 (coding exon 12) of the INSR gene. This alteration results from a G to C substitution at nucleotide position 2388, causing the arginine (R) at amino acid position 796 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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