ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1566+3G>T

gnomAD frequency: 0.00002  dbSNP: rs752607737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513270 SCV000608805 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198545 SCV001369523 uncertain significance Choroidal dystrophy, central areolar, 1 2019-10-28 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV001299148 SCV001488227 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-01-06 criteria provided, single submitter clinical testing This sequence change falls in intron 6 of the GUCY2D gene. It does not directly change the encoded amino acid sequence of the GUCY2D protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs752607737, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. ClinVar contains an entry for this variant (Variation ID: 444398). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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