ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.3164C>T (p.Ala1055Val) (rs1599874183)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002665 SCV001160653 likely pathogenic none provided 2019-08-28 criteria provided, single submitter clinical testing The INSR c.3164C>T; p.Ala1055Val variant, also known in alternative nomenclature as p.Ala1028Val, is reported in the literature in several individuals affected with type A insulin resistance and Rabson-Mendenhall syndrome (Jiang 2011, Rique 2000). Parental testing of one affected individuals with this variant indicated it occurred de novo (Jiang 2011), while the other affected individual had relatives found to carry this variant who had high serum insulin levels (Rique 2000). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. Functional studies in cultured cells suggest that the p.Ala1055Val protein is poorly processed to its mature form and exhibits decreased signaling activity (Jiang 2011). Based on available information, this variant is considered to be likely pathogenic. References: Jiang S et al. Mendenhall syndrome - phenotypic heterogeneity of insulin receptor gene mutations. Endocr J. 2011;58(11):931-40. Rique S et al. Identification of three novel mutations in the insulin receptor gene in type A insulin resistant patients. Clin Genet. 2000 Jan;57(1):67-9.

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