ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1633C>T (p.Gln545Ter)

gnomAD frequency: 0.00001  dbSNP: rs1290420698
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003768615 SCV004571426 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-11-20 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Leber congenital amaurosis and congenital night blindnes (PMID: 17964524, 29559409). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 689384). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln545*) 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).
OMIM RCV000850097 SCV000992261 pathogenic Leber congenital amaurosis 1 2019-09-03 no assertion criteria provided literature only
OMIM RCV000850098 SCV000992262 pathogenic Night blindness, congenital stationary, type1i 2019-09-03 no assertion criteria provided literature only

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