ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.3139-3C>G

dbSNP: rs771769796
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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 RCV001299490 SCV001488584 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-03-10 criteria provided, single submitter clinical testing This sequence change falls in intron 17 of the GUCY2D gene. It does not directly change the encoded amino acid sequence of the GUCY2D protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). 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: 1002992). 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 may disrupt the consensus splice site. 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.
PreventionGenetics, part of Exact Sciences RCV003898289 SCV004711995 uncertain significance GUCY2D-related disorder 2023-12-06 no assertion criteria provided clinical testing The GUCY2D c.3139-3C>G variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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