ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.1234dup (p.Val412fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003503370 SCV004330389 uncertain significance Erythrocytosis, familial, 3 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val412Glyfs*2) in the EGLN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acid(s) of the EGLN1 protein. This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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