ClinVar Miner

Submissions for variant NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) (rs74339576)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671339 SCV000796303 likely pathogenic Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia 2017-12-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001103550 SCV001260322 uncertain significance Transient neonatal diabetes mellitus 3 2017-05-30 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 Clinical Services Laboratory,Illumina RCV000009220 SCV001260323 uncertain significance Islet cell hyperplasia 2017-05-25 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001103551 SCV001260324 uncertain significance Maturity-onset diabetes of the young, type 13 2017-04-28 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.
Invitae RCV001224980 SCV001397212 pathogenic not provided 2019-04-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 301 of the KCNJ11 protein (p.Arg301His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs74339576, ExAC 0.02%). This variant has been observed in several individuals affected with congenital hyperinsulinism (PMID: 14715863, 15562009, 23275527, 23345197). ClinVar contains an entry for this variant (Variation ID: 8683). This variant has been reported to affect KCNJ11 protein function (PMID:18250167). This variant disrupts the p.Arg301 amino acid residue in KCNJ11. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18250167, 20685672, 23275527). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009220 SCV000029438 pathogenic Islet cell hyperplasia 2005-02-01 no assertion criteria provided literature only

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