ClinVar Miner

Submissions for variant NM_001166244.1(HPSE2):c.1291_1292del (p.Asn431fs) (rs397515338)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000000104 SCV000782663 pathogenic Urofacial syndrome 1 2017-05-22 criteria provided, single submitter clinical testing
Invitae RCV001241819 SCV001414867 pathogenic not provided 2019-04-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the HPSE2 gene (p.Asn489Profs*126). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 104 amino acids of the HPSE2 protein. This variant is present in population databases (rs397515338, ExAC 0.03%). This variant has been observed in individuals with urofacial syndrome and has been reported to segregate with disease (PMID: 20560209, 20560210). ClinVar contains an entry for this variant (Variation ID: 84). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000000104 SCV000020247 pathogenic Urofacial syndrome 1 2010-06-11 no assertion criteria provided literature only
GeneReviews RCV000000104 SCV000086986 pathologic Urofacial syndrome 1 2013-08-22 no assertion criteria provided curation Converted during submission to Pathogenic.

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