ClinVar Miner

Submissions for variant NM_015404.4(WHRN):c.737del (p.Pro246fs)

dbSNP: rs1589229634
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003556086 SCV004296062 pathogenic not provided 2023-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 31704). This premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 21569298). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro246Hisfs*13) in the WHRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WHRN are known to be pathogenic (PMID: 12833159, 15841483, 22147658).
OMIM RCV000024377 SCV000045670 pathogenic Usher syndrome type 2D 2012-03-01 no assertion criteria provided literature only

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