ClinVar Miner

Submissions for variant NM_001365068.1(ASTN2):c.2806+26604_2806+26606dup (rs1588218148)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Institute Rare Disease Group, Broad Institute RCV001004975 SCV001164517 uncertain significance Sarcotubular myopathy 2018-12-03 criteria provided, single submitter research The homozygous p.Ile475dup variant in TRIM32 was identified by our study in one individual with limb-girdle muscular dystrophy (LGMD). The p.Ile475dup variant in TRIM32 has not been previously reported in individuals with LGMD and was absent from large population studies. Computational tools suggest this variant will create a nearby splice site. However, this information is not predictive enough to determine pathogenicity. In summary, while there is some suspicion for a pathogenic role, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2, PM4, PP3 (Richards 2015).

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