ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.41T>C (p.Leu14Pro) (rs745857330)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726299 SCV000343527 uncertain significance not provided 2017-05-17 criteria provided, single submitter clinical testing
GeneDx RCV000726299 SCV000566427 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing The L14P variant in the INSR gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The L14P variant is not observed at a significant frequency in large population cohorts; however, limited data are available (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The L14P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret L14P as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000408260 SCV000415583 uncertain significance Insulin-resistant diabetes mellitus AND acanthosis nigricans 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308234 SCV000415584 uncertain significance Pineal hyperplasia AND diabetes mellitus syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365243 SCV000415585 uncertain significance Leprechaunism syndrome 2016-06-14 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664158 SCV000787610 uncertain significance Monogenic diabetes 2017-06-16 criteria provided, single submitter research ACMG Criteria=PP3 (4 predictors), BP4 (5 predictors)

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