ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2705T>C (p.Val902Ala)

dbSNP: rs1975935914
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Fundacion Jimenez Diaz University Hospital RCV001270353 SCV001450579 uncertain significance Cone-rod dystrophy criteria provided, single submitter clinical testing Variant not found in population databases, predicted deleterious by in-silico algorithms and is a novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before (rs1598150793 ). (ACMG: PM2: Moderate; PM5: Moderate; PP5: Supporting)

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