Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000340669 | SCV000359288 | likely benign | Retinitis Pigmentosa, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000393458 | SCV000359289 | likely benign | Stargardt Disease, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000301076 | SCV000359290 | likely benign | Cone-Rod Dystrophy, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000353628 | SCV000359291 | likely benign | Macular degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000486564 | SCV000564536 | uncertain significance | not provided | 2018-12-20 | criteria provided, single submitter | clinical testing | The S1642I variant in the ABCA4 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S1642I variant is observed in 348/24,036 (1.4%) alleles from individuals of African background and 372/277,170 (0.13%) total alleles in large population cohorts, including one homozygous individual, which is greater than expected for this disorder (Lek et al., 2016). However, the S1642I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret S1642I as a variant of uncertain significance. |
Invitae | RCV000486564 | SCV001039157 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001075649 | SCV001241276 | uncertain significance | Retinal dystrophy | 2019-02-25 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV001101750 | SCV001258387 | likely benign | ABCA4-Related Disorders | 2017-04-28 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |