ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala)

dbSNP: rs1567961904
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755725 SCV000883211 uncertain significance Choroidal dystrophy, central areolar, 1 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Uncertain Significance - Insufficient Evidence, for Choroidal dystrophy, central areolar 1, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/22695961). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM1-Supporting => PM1 downgraded in strength to Supporting.
OMIM RCV000755725 SCV000622099 pathogenic Choroidal dystrophy, central areolar, 1 2023-08-18 no assertion criteria provided literature only

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