ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2523GCTGGA[3] (p.Glu845_Lys846insLeuGlu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002875861 SCV003228735 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-08-10 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.2529_2534dup, results in the insertion of 2 amino acid(s) of the GUCY2D protein (p.Leu844_Glu845dup), but otherwise preserves the integrity of the reading frame.

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