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      "type": "VariantPathogenicityInterpretationGuideline",
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      "id": "MONDO:0015152",
      "label": "autosomal recessive limb-girdle muscular dystrophy",
      "type": "GeneticCondition"
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                        "comments": "This variant has been identified in at least 18 individuals with features consistent with LGMD (PMID: 10330340, 1641109, 32994280, 30564623, 16141003, 30919934; LOVD CAPN3_000024; GRASP-LGMD Consortium internal data communication; ClinVar SCV001164515.1), including in a homozygous state without reported consanguinity in three unrelated patients (1.0 pt, PMID: 10330340, 30919934). It has also been reported in unconfirmed phase with a pathogenic variant in at least six patients (c.2120A>G p.(Asp707Gly), 0.5 pts, PMID: 32994280, LOVD Individual #00311302; c.1469G>A p.(Arg490Gln), 0.5 pts, PMID: 16141003, LOVD Individual #00214226; c.550del p.(Thr184ArgfsTer36) x4, 2.0 pts, PMID: 16141003, LOVD Individuals #00214228, #00214229, GRASP-LGMD Consortium internal data communication; ClinVar SCV001164515.1 internal data communication) (PM3_Very Strong). \n\nunconfirmed phase:\nc.550del p.(Thr184ArgfsTer36) x4: predicted on different haplotypes\nc.2120A>G p.(Asp707Gly): predicted on different haplotypes\nc.1469G>A p.(Arg490Gln): predicted on different haplotypes\n\nunscored cases\nunconfirmed phase with c.2148G>T p.(Glu716Asp)\nunconfirmed phase with c.767T>C p.(Ile256Thr)\nunconfirmed phase with c.2185-5_2190dup\nunconfirmed phase with c.1073A>G p.(Asn358Ser)\nunconfirmed phase with c.822T>G p.(Tyr274Ter)\nunconfirmed phase with c.802-9G>A x2\nunconfirmed phase with c.755T>A p.(Met252Lys)",
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                        "comments": "Another amino acid change at the same position, c.1621C>T p.(Arg541Trp), is classified as Pathogenic without use of PM5: PM3_Very Strong, PP4, PP1_Moderate, PM2_Supporting, PP3. Both have REVEL scores >0.7 and spliceAI scores <0.05, so the code requirements are met. However, the Grantham difference for Arg-Trp (101) is significantly higher than than for Arg-Gln (43). Since a P classification for p.(Arg541Gln) already met, code not applied.\n",
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    "id": "CG-PCER-VARINT:CA220342/MONDO:0015152/187",
    "metadata": {
      "created": "2026-04-09T22:56:30.296Z",
      "note": "DISCLAIMER: While the data/content in this document is approved by ClinGen expert panel(s), the SEPIO schema presented here is an initial prototype and has not been reviewed nor finalized by the ClinGen Data Exchange Modeling Team. We expect it to differ significantly from the final schema.",
      "producedAtUTC": "Thu, 09 Apr 2026 22:56:30 -0000",
      "schemaLabel": "Evidence Repository.Beta-1 (Unofficial)",
      "version": "2.0.0"
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      "@id": "https://loinc.org/LA6668-3",
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    "type": "VariantPathogenicityInterpretation",
    "uuid": "9a15c9b5-3d55-403b-99ce-f3ec5b0adfc3",
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      "@id": "https://reg.genome.network/allele/CA220342",
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          "alleleName": [
            {
              "name": "NM_000070.3:c.1622G>A"
            }
          ],
          "preferred": true
        }
      ],
      "relatedIdentifier": [
        {
          "label": "NM_000070.3(CAPN3):c.1622G>A (p.Arg541Gln)"
        }
      ],
      "type": "CAR"
    }
  },
  "metadata": {
    "rendered": {
      "by": "https://erepo.genome.network/evrepo/api/summary/srvc",
      "when": "2026-10-14T02:35:44.916Z"
    }
  },
  "status": {
    "code": 200,
    "name": "OK"
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}