ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2646C>G (p.Tyr882Ter)

dbSNP: rs1567961697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388269 SCV001589197 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-11-01 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: 1074833). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 29178642). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr882*) 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).
Fulgent Genetics, Fulgent Genetics RCV005014543 SCV005652780 pathogenic Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 2024-03-07 criteria provided, single submitter clinical testing

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