Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252210 | SCV002523135 | uncertain significance | See cases | 2021-04-26 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PS4, PM2, PM3 |
| Ambry Genetics | RCV004026148 | SCV004879571 | pathogenic | not specified | 2021-05-18 | criteria provided, single submitter | clinical testing | The c.334_335delGA (p.E112Rfs*3) alteration, located in exon 5 (coding exon 3) of the GUCY1A3 gene, consists of a deletion of 2 nucleotides from position 334 to 335, causing a translational frameshift with a predicted alternate stop codon after 3 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from the Genome Aggregation Database (gnomAD) database, the GUCY1A3 c.334_335delGA alteration was observed in 0.007% (17/248,772) of total alleles studied, with a frequency of 0.04% (13/33,908) in the Latino subpopulation. This alteration was confirmed compound heterozygous with c.1550G>A, p.C517Y, in a 3 year old female patient with a diagnosis of Moyamoya disease (Wallace, 2016). Exome sequencing was performed on the patient, her unaffected parents, and two unaffected sisters. The patient had two strokes, dysphagia, hypertension, and a brain MRI showing evidence of bilateral middle cerebral artery infarcts and generalized volume loss. Based on the available evidence, this alteration is classified as pathogenic. |
| OMIM | RCV000677375 | SCV000803638 | pathogenic | Moyamoya disease with early-onset achalasia | 2018-08-16 | no assertion criteria provided | literature only | |
| University of Washington Center for Mendelian Genomics, |
RCV000755173 | SCV000882998 | pathogenic | Moyamoya disease 1 | no assertion criteria provided | research |