ClinVar Miner

Submissions for variant NM_001369268.1(ACAN):c.2536_2537delinsA (p.Pro846fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Dr. Eberhard & Partner Dortmund RCV004698413 SCV005196593 likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans criteria provided, single submitter clinical testing The variant c.2536_2537delinsA for p.(Pro846Thrfs*99) in ACAN leads to a shift in the reading frame and suggests a loss of function of the protein or premature degradation of the ACAN mRNA (nonsense me-diated RNA decay). It has not yet been described in the literature and databases and is not found in population databases of various ethnic groups.

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