ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1127C>T (p.Ser376Phe)

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Total submissions: 1
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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 RCV001174395 SCV001337533 uncertain significance Monogenic diabetes 2018-07-06 criteria provided, single submitter research ACMG criteria: PP3 (REVEL score 0.722 + 8 predictors), PM2 (1 individual in gnomAD)= VUS note: possible functional domain (7th helix of transmembrane domain, another variant in this domain Y356C is associated with adult onset T2DM and functional studies showed relatively (to NDM variants) mild effects on channel activity, PMID: 18346985 but there is some variation in region in gnomAD)

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