ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.131TGC[1] (p.Leu45del)

dbSNP: rs2151799258
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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 RCV001362204 SCV001558208 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2020-01-16 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with GUCY2D-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant, c.134_136del, results in the deletion of 1 amino acid(s) of the GUCY2D protein (p.Leu45del), but otherwise preserves the integrity of the reading frame.
Centogene AG - the Rare Disease Company RCV001810037 SCV002059516 uncertain significance Choroidal dystrophy, central areolar, 1 2020-04-09 criteria provided, single submitter clinical testing

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