ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.197_201GCCCC[3] (p.Asp70fs) (rs730882136)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000161945 SCV000211930 pathogenic Multiple endocrine neoplasia, type 1 2019-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp70Profs*51) in the MEN1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Truncating variants in MEN1 are known to be pathogenic. This particular truncation has been reported in the literature in individuals affected with multiple endocrine neoplasia type 1 (PMID: 9437237, 22026581). This variant is also known as 317ins5 and c.206_207insGCCC in the literature. ClinVar contains an entry for this variant (Variation ID: 183079). Loss-of-function variants in MEN1 are known to be pathogenic (PMID: 12112656, 17853334). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000182459 SCV000234804 pathogenic not provided 2018-03-19 criteria provided, single submitter clinical testing The c.202_206dupGCCCC variant in the MEN1 gene has been reported previously in association with multiple endocrine neoplasia type 1 (for examples, see Giraud et al., 1998; Wautot et al., 2002; Park et al., 2003). The duplication causes a frameshift starting with codon Aspartic Acid 70, changes this amino acid to a Proline residue and creates a premature Stop codon at position 51 of the new reading frame, denoted p.Asp70ProfsX51. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.202_206dupGCCCC to be pathogenic.
PreventionGenetics,PreventionGenetics RCV000182459 SCV000805926 pathogenic not provided 2016-08-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000182459 SCV000842745 pathogenic not provided 2018-04-20 criteria provided, single submitter clinical testing

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