ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2813C>G (p.Pro938Arg)

dbSNP: rs1975945188
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001171921 SCV001334824 likely pathogenic not provided 2020-03-01 criteria provided, single submitter clinical testing
Invitae RCV002558725 SCV003338490 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 938 of the GUCY2D protein (p.Pro938Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of autosomal recessive Leber congenital amaurosis (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 916319). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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