ClinVar Miner

Submissions for variant NM_021828.4(HPSE2):c.1516C>T (p.Arg506Ter) (rs267606866)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061376 SCV001226116 pathogenic not provided 2019-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg506*) in the HPSE2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs267606866, ExAC 0.006%). This variant has been observed in individual(s) with urofacial syndrome (PMID: 20560209). ClinVar contains an entry for this variant (Variation ID: 83). Loss-of-function variants in HPSE2 are known to be pathogenic (PMID: 20560209, 20560210). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000103 SCV000020246 pathogenic Urofacial syndrome 1 2010-06-11 no assertion criteria provided literature only
GeneReviews RCV000000103 SCV000086987 pathologic Urofacial syndrome 1 2013-08-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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