ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2545A>G (p.Thr849Ala)

dbSNP: rs2151803362
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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 RCV001986324 SCV002279913 likely pathogenic Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-04-11 criteria provided, single submitter clinical testing 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. This missense change has been observed in individual(s) with autosomal dominant GUCY2D-related conditions (PMID: 23734073). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 849 of the GUCY2D protein (p.Thr849Ala). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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