ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)

dbSNP: rs61749679
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989737 SCV001140281 pathogenic Cone-rod dystrophy 6 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001037164 SCV001200564 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser448*) 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). This variant is present in population databases (rs61749679, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 10951519). ClinVar contains an entry for this variant (Variation ID: 98540). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000084831 SCV001248901 pathogenic not provided 2016-10-01 criteria provided, single submitter clinical testing
GeneDx RCV000084831 SCV002576175 pathogenic not provided 2022-09-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 32531858, 10951519, 29548835, 32865313, 15024725)
Retina International RCV000084831 SCV000116967 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250830 SCV001426317 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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