ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.760G>T (p.Glu254Ter)

gnomAD frequency: 0.00002  dbSNP: rs756730335
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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 RCV001963076 SCV002242618 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu254*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1459421). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This variant is present in population databases (rs756730335, gnomAD 0.02%).
Fulgent Genetics, Fulgent Genetics RCV002492137 SCV002791991 likely pathogenic Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i 2021-09-03 criteria provided, single submitter clinical testing

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