Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000756220 | SCV000883965 | uncertain significance | not provided | 2017-06-02 | criteria provided, single submitter | clinical testing | The GUCY2D c.1138C>T;p.Arg380Cys variant has been published in an individual with retinitis pigmentosa (Jinda 2014). The variant is not listed in the ClinVar database, but is listed in the dbSNP variant database (rs775105018) with an allele frequency of up to 0.2881 percent (99/34360 alleles) in the Latino population in the Genome Aggregation Database. The amino acid at this position is moderately conserved across species and computational algorithms (PolyPhen2, SIFT) predict this variant is deleterious. Taken together, the clinical significance of this variant cannot be determined at this time. If this variant is later determined to be pathogenic, this variant may be causative for autosomal dominant cone rod dystrophy or autosomal recessive Leber congenital amaurosis (OMIM#600179). References: Jinda W et al. Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes. Invest Ophthalmol Vis Sci. 2014 Apr 7;55(4):2259-68. |
| Invitae | RCV001078901 | SCV001021203 | likely benign | Cone-rod dystrophy 6; Leber congenital amaurosis 1 | 2024-01-23 | criteria provided, single submitter | clinical testing |