ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1828C>A (p.Leu610Ile)

gnomAD frequency: 0.00003  dbSNP: rs779224998
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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 RCV001322331 SCV001513198 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 610 of the GUCY2D protein (p.Leu610Ile). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is present in population databases (rs779224998, ExAC 0.002%). 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 RCV004035063 SCV004879620 uncertain significance Inborn genetic diseases 2023-10-10 criteria provided, single submitter clinical testing The c.1828C>A (p.L610I) alteration is located in exon 9 (coding exon 8) of the GUCY2D gene. This alteration results from a C to A substitution at nucleotide position 1828, causing the leucine (L) at amino acid position 610 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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