ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2516C>T (p.Thr839Met)

gnomAD frequency: 0.00001  dbSNP: rs61750174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001239266 SCV001412124 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2024-12-19 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 839 of the GUCY2D protein (p.Thr839Met). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with clinical features of GUCY2D-related conditions (PMID: 35567543, 37327959; internal data). ClinVar contains an entry for this variant (Variation ID: 98569). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt GUCY2D protein function with a positive predictive value of 80%. 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.
Retina International RCV000084864 SCV000117000 not provided not provided no assertion provided not provided

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