ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn) (rs188568530)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989738 SCV001140282 uncertain significance Cone-rod dystrophy 6 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001070091 SCV001235301 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 558 of the GUCY2D protein (p.Asp558Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs188568530, ExAC 0.006%). This variant has not been reported in the literature in individuals with GUCY2D-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharon lab,Hadassah-Hebrew University Medical Center RCV001003038 SCV001161095 likely pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research

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