ClinVar Miner

Submissions for variant NM_000360.4(TH):c.*277G>A

gnomAD frequency: 0.00418  dbSNP: rs3842725
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000393658 SCV000369903 uncertain significance Autosomal recessive DOPA responsive dystonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263719 SCV000483266 likely benign Transient Neonatal Diabetes, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000318900 SCV000483267 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001544723 SCV001763906 likely benign not provided 2020-09-21 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464168 SCV002605399 benign Neonatal insulin-dependent diabetes mellitus criteria provided, single submitter research Mutations in INS gene can cause early onset diabetes mellitus which is insulin dependent. May have poor response to sulfonylureas, as this mutation can cause beta cell destruction. However no sufficient evidence is found to ascertain the role of this particular variant rs3842725, yet.

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