ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1339C>T (p.Pro447Ser)

gnomAD frequency: 0.00001  dbSNP: rs1029006549
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001855624 SCV002223148 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-04-24 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). ClinVar contains an entry for this variant (Variation ID: 560462). 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 sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 447 of the GUCY2D protein (p.Pro447Ser).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000678574 SCV000804654 uncertain significance Cone-rod dystrophy 6 2016-09-01 no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001796769 SCV002037410 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001796769 SCV002038232 uncertain significance not provided no assertion criteria provided clinical testing

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