ClinVar Miner

Submissions for variant NM_015932.6(POMP):c.334_335del (p.Ile112fs)

dbSNP: rs1555257073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333089 SCV004041377 pathogenic Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 2023-08-12 criteria provided, single submitter clinical testing
Undiagnosed Diseases Network, NIH RCV000663381 SCV000746565 pathogenic Proteasome-associated autoinflammatory syndrome 2 2017-02-14 criteria provided, single submitter clinical testing This frameshift mutation is categorized as deleterious according to ACMG guidelines (PMID: 18414213) and was found de novo in a 2-year-old male with seizure-like movements, B-lymphocyte immunodeficiency, thrombocytopenia, anemia, eosinophilia, hypogammaglobulinemia, dermatosis, and skin anomalies suggestive of Sweet syndrome. This individual has been reported in PMID: 29805043 (individual B).
OMIM RCV000663381 SCV000786664 pathogenic Proteasome-associated autoinflammatory syndrome 2 2018-07-17 no assertion criteria provided literature only

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