ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)

gnomAD frequency: 0.00020  dbSNP: rs77131926
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001451232 SCV001654859 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001451232 SCV001993497 uncertain significance not provided 2019-08-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226774 SCV002505409 uncertain significance Maturity onset diabetes mellitus in young criteria provided, single submitter research Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. It is also associated with with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs77131926 variant in MODY yet.
Ambry Genetics RCV004035507 SCV004889938 uncertain significance Inborn genetic diseases 2022-05-10 criteria provided, single submitter clinical testing Unlikely to be causative of KCNJ11-related monogenic diabetes (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001280339 SCV001467515 uncertain significance Permanent neonatal diabetes mellitus 2020-08-30 no assertion criteria provided clinical testing

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