ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.1195C>T (p.Arg399Ter) (rs121913151)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520627 SCV000617817 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing The R399X variant in the INSR gene has been reported previously in the heterozygous state, using alternate nomenclature R372X, in a patient with autosomal recessive severe insulin resistance for whom no second INSR variant was identified (Longo et al., 1992). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is observed in 2/246216 alleles in large population cohorts (Lek et al., 2016). We interpret R399X as a variant of unknown significance.
OMIM RCV000015816 SCV000036083 pathogenic Leprechaunism syndrome 1993-01-01 no assertion criteria provided literature only

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