ClinVar Miner

Submissions for variant NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His)

gnomAD frequency: 0.20071  dbSNP: rs8069344
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel, ClinGen RCV005053939 SCV005687733 benign GUCY2D-related recessive retinopathy 2025-01-30 reviewed by expert panel curation The NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) variant is predicted to change the leucine at position p.782 to histidine. This variant is present in gnomAD v.4.1.0 at a GrpMax allele frequency of 0.3995, with 30227 alleles / 74954 total alleles in the African/African American population, which is higher than the ClinGen LCA / eoRD VCEP BA1 threshold of >0.016 (BA1). This variant has been found in the homozygous state in 17920 adult individuals in gnomAD (gnomAD version 4.1.0; BS2). The computational predictor REVEL gives a score of 0.119, which is below the ClinGen LCA / eoRD VCEP threshold of ≤0.183 and predicts a non-damaging effect on RetGC-1 protein function. In addition, the splicing impact predictor SpliceAI gives a delta score of 0.01, which is below the ClinGen LCA / eoRD VCEP recommended threshold of <0.1 and does not predict an impact on splicing (BP4_Moderate). In summary, this variant meets the criteria to be classified as Benign for GUCY2D-related recessive retinopathy based on the ACMG/AMP criteria applied, as specified by the ClinGen LCA/eoRD VCEP: BA1, BS2, BP4_Moderate. (VCEP specifications version 1.0.0; date of approval 01/22/2025).
PreventionGenetics, part of Exact Sciences RCV000248393 SCV000302887 benign not specified criteria provided, single submitter clinical testing
Mendelics RCV000989741 SCV001140285 benign Cone-rod dystrophy 6 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517915 SCV001726523 benign Cone-rod dystrophy 6; Leber congenital amaurosis 1 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001651111 SCV001870098 benign not provided 2018-07-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11035546, 17964524, 18161624, 29178642, 17344846, 20079931, 16741161)
Genome-Nilou Lab RCV001702377 SCV001934045 benign Choroidal dystrophy, central areolar, 1 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989741 SCV001934046 benign Cone-rod dystrophy 6 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701716 SCV001934047 benign Leber congenital amaurosis 1 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702378 SCV001934048 benign Night blindness, congenital stationary, type1i 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651111 SCV005251563 benign not provided criteria provided, single submitter not provided

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