ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1828C>G (p.Leu610Val)

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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 RCV003075619 SCV003467896 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-06-12 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 610 of the GUCY2D protein (p.Leu610Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GUCY2D-related conditions. 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 tolerated. 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.
Ambry Genetics RCV003377866 SCV004087743 uncertain significance Inborn genetic diseases 2023-08-04 criteria provided, single submitter clinical testing The c.1828C>G (p.L610V) alteration is located in exon 9 (coding exon 8) of the GUCY2D gene. This alteration results from a C to G substitution at nucleotide position 1828, causing the leucine (L) at amino acid position 610 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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