ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.3042G>A (p.Leu1014=)

gnomAD frequency: 0.00050  dbSNP: rs139019420
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240762 SCV001413733 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-10-13 criteria provided, single submitter clinical testing This sequence change affects codon 1014 of the GUCY2D mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GUCY2D protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs139019420, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. ClinVar contains an entry for this variant (Variation ID: 966153). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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