ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)

gnomAD frequency: 0.00001  dbSNP: rs1555635778
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593037 SCV000702469 pathogenic not provided 2016-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000700865 SCV000829640 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2018-04-06 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, 17964524). This variant has been reported to segregate with Leber congenital amaurosis in a family (PMID: 10636733). This variant is also known as c.2646C>T in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln855*) in the GUCY2D gene. It is expected to result in an absent or disrupted protein product.
Mendelics RCV000989742 SCV001140286 pathogenic Cone-rod dystrophy 6 2019-05-28 criteria provided, single submitter clinical testing

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