ClinVar Miner

Submissions for variant NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) (rs61749670)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693446 SCV000821316 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2017-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro130Leufs*36) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in individuals and families affected with Leber congenital amaurosis (PMID: 8944027, 20683928). Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726, 17964524). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009945 SCV000030166 pathogenic Leber congenital amaurosis 1 1998-08-01 no assertion criteria provided literature only
Retina International RCV000084897 SCV000117033 not provided not provided no assertion provided not provided

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