ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2516del (p.Thr839fs)

dbSNP: rs756044745
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207599 SCV001378961 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-03-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr839Argfs*27) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 938393). This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis (PMID: 29178642). This variant is present in population databases (rs756044745, gnomAD 0.0009%).

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