ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1773del (p.Asn591fs)

dbSNP: rs794727952
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180468 SCV000232917 pathogenic not provided 2014-07-25 criteria provided, single submitter clinical testing
DBGen Ocular Genomics RCV001526721 SCV001737145 pathogenic Leber congenital amaurosis 1 2021-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852248 SCV002230016 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-07-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs794727952, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 198995). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This sequence change creates a premature translational stop signal (p.Asn591Lysfs*46) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726).

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