ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)

dbSNP: rs1424348888
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002250039 SCV002516530 pathogenic Leber congenital amaurosis 1 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003774717 SCV004610214 pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2023-12-03 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 present in population databases (no rsID available, gnomAD 0.01%). Disruption of the initiator codon has been observed in individuals with Leber congenital amaurosis (PMID: 10951519, 15024725). ClinVar contains an entry for this variant (Variation ID: 1685872). This variant disrupts a region of the GUCY2D protein in which other variant(s) (p.Glu103Lys) have been determined to be pathogenic (PMID: 21602930, 28041643, 29178642, 34048777; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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