ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.1072G>A (p.Ala358Thr)

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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 RCV002608148 SCV002946230 uncertain significance Cone-rod dystrophy 6; Leber congenital amaurosis 1 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 358 of the GUCY2D protein (p.Ala358Thr). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV003269200 SCV003982220 uncertain significance Inborn genetic diseases 2023-05-26 criteria provided, single submitter clinical testing The c.1072G>A (p.A358T) alteration is located in exon 4 (coding exon 3) of the GUCY2D gene. This alteration results from a G to A substitution at nucleotide position 1072, causing the alanine (A) at amino acid position 358 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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