ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.959C>T (p.Thr320Met)

gnomAD frequency: 0.00087  dbSNP: rs138528064
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192986 SCV000247627 likely benign not specified 2015-03-17 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725826 SCV000339648 uncertain significance not provided 2016-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000725826 SCV001049714 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530122 SCV004739246 uncertain significance INSR-related disorder 2023-11-08 no assertion criteria provided clinical testing The INSR c.959C>T variant is predicted to result in the amino acid substitution p.Thr320Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.26% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/19-7184342-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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