Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000187111 | SCV000224574 | likely benign | not specified | 2017-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000766779 | SCV000240686 | uncertain significance | not provided | 2018-10-11 | criteria provided, single submitter | clinical testing | The A18V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A18V variant is observed in 51/9610 (0.5%) alleles from individuals of African background in large population cohorts (Lek et al., 2016). The A18V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
Invitae | RCV001085594 | SCV000549211 | benign | Neuronal ceroid lipofuscinosis | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000515438 | SCV000611458 | uncertain significance | Neuronal ceroid lipofuscinosis 6; Adult neuronal ceroid lipofuscinosis | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000187111 | SCV000612846 | uncertain significance | not specified | 2016-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000718308 | SCV000849170 | uncertain significance | Seizures | 2020-08-03 | criteria provided, single submitter | clinical testing | The p.A18V variant (also known as c.53C>T), located in coding exon 1 of the CLN6 gene, results from a C to T substitution at nucleotide position 53. The alanine at codon 18 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |