ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2122T>C (p.Trp708Arg)

dbSNP: rs1064797217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488275 SCV000575087 likely pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
Invitae RCV001360599 SCV001556524 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2020-08-31 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GUCY2D protein function. This variant has been observed in individual(s) with Leber congenital amaurosis (PMID: 17964524). ClinVar contains an entry for this variant (Variation ID: 425122). This sequence change replaces tryptophan with arginine at codon 708 of the GUCY2D protein (p.Trp708Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine.

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