ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1582C>T (p.Arg528Ter)

dbSNP: rs1349155167
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235694 SCV001408393 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-11-08 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of GUCY2D-related conditions (PMID: 31630094, 34048777). This sequence change creates a premature translational stop signal (p.Arg528*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. ClinVar contains an entry for this variant (Variation ID: 961926). For these reasons, this variant has been classified as Pathogenic.

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