ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.743C>G (p.Ser248Trp)

dbSNP: rs138922415
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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 RCV001982693 SCV002226953 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2021-07-14 criteria provided, single submitter clinical testing This sequence change replaces serine with tryptophan at codon 248 of the GUCY2D protein (p.Ser248Trp). The serine residue is highly conserved and there is a large physicochemical difference between serine and tryptophan. This variant is present in population databases (rs138922415, ExAC 0.002%). This missense change has been observed in individual(s) with autosomal recessive inherited retinal dystrophy (PMID: 23035049). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on GUCY2D protein function (PMID: 23035049, 27881908). 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.

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