ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.3G>C (p.Met1Ile)

gnomAD frequency: 0.00001  dbSNP: rs281865409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001388964 SCV001590154 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-10-18 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the GUCY2D mRNA. The next in-frame methionine is located at codon 218. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with autosomal recessive Leber congenital amaurosis (PMID: 10951519, 15024725). ClinVar contains an entry for this variant (Variation ID: 98604). This variant disrupts the p.Glu103 amino acid residue in GUCY2D. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 28041643, 29178642; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000084899 SCV000117035 not provided not provided no assertion provided not provided
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001250812 SCV001426297 pathogenic Leber congenital amaurosis 1 no assertion criteria provided research

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