ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2476C>T (p.Gln826Ter)

dbSNP: rs1338490917
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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 RCV001383053 SCV001582071 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2020-03-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GUCY2D are known to be pathogenic (PMID: 10951519, 11328726). This variant has been observed in individual(s) with autosomal recessive Leber congenital amaurosis (PMID: 23661368). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln826*) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product.

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