Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Clinical Services Laboratory, |
RCV000202603 | SCV000389481 | likely benign | Age-related macular degeneration 3 | 2017-04-27 | 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
Illumina Clinical Services Laboratory, |
RCV000405354 | SCV000389482 | likely benign | Cutis laxa | 2017-04-27 | 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. |
ARUP Laboratories, |
RCV000506503 | SCV000603601 | likely benign | none provided | 2020-03-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000584853 | SCV000617176 | uncertain significance | not provided | 2018-11-16 | criteria provided, single submitter | clinical testing | The V126M variant in the FBLN5 gene has previously been reported in both disease and control cohorts (Lotery et al., 2006; Auer-Grumbach et al., 2011; Duvvari et al., 2016). It was first reported in an individual with age-related macular degeneration; however, it was also identified in five controls of Dutch ancestry (Lotery et al., 2006). Similarly, Auer-Grumbach et al. (2011) identified this variant in individuals with age-related macular degeneration, but surmised it to be a rare polymorphism because they also observed it in three control individuals and established non-segregation in at least one family with CMT disease. More recently, Duvvari et al. (2016) reported V126M in a sporadic case of cuticular drusen subtype of age-related macular degeneration. The V126M variant has been observed in 397/124,280 alleles (0.3%) from individuals of European (non-Finnish) ancestry in large population cohorts (Lek et al., 2016).The V126M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Moreover, transfection of V126M into COS-7 cells showed no significant effect on fibulin-5 protein secretion or quantity (Lotery et al., 2006), and biophysical techniques did not suggest any gross structural changes in association with the V126M variant (Jones et al., 2010). |
Ce |
RCV000584853 | SCV000692797 | uncertain significance | not provided | 2019-10-01 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000584853 | SCV000703268 | uncertain significance | not provided | 2016-12-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000584853 | SCV001096520 | likely benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000202603 | SCV000257549 | pathogenic | Age-related macular degeneration 3 | 2011-06-01 | no assertion criteria provided | literature only |