ClinVar Miner

Submissions for variant NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429473 SCV000517254 uncertain significance not provided 2018-07-11 criteria provided, single submitter clinical testing The G370S variant in the HNF1B gene has been reported previously in association with maturity-onset diabetes of the young type 5/ renal cysts and diabetes syndrome, however, additional clinical and family segregation information and functional studies were not provided (Bellanne-Chantelot et al., 2005; Poitou et al., 2012). The G370S variant is observed in 44/24020 (0.18%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The G370S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties, however, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, we interpret G370S as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000429473 SCV000707876 uncertain significance not provided 2018-07-05 criteria provided, single submitter clinical testing
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000787092 SCV000926019 uncertain significance Renal cysts and diabetes syndrome 2019-07-06 criteria provided, single submitter literature only

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