ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.175del (p.Leu59fs)

dbSNP: rs2151799287
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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 RCV001960709 SCV002235040 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu59Trpfs*26) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive Leber congenital amaurosis (PMID: 31630094). This variant is also known as 174delC. ClinVar contains an entry for this variant (Variation ID: 1454622). For these reasons, this variant has been classified as Pathogenic.

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