Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000726582 | SCV000240642 | uncertain significance | not provided | 2020-11-10 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV000473058 | SCV000549220 | likely benign | Neuronal ceroid lipofuscinosis | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726582 | SCV000701640 | uncertain significance | not provided | 2016-09-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311261 | SCV000846896 | uncertain significance | Inborn genetic diseases | 2016-08-04 | criteria provided, single submitter | clinical testing | The p.A85P variant (also known as c.253G>C), located in coding exon 1 of the CLN5 gene, results from a G to C substitution at nucleotide position 253. The alanine at codon 85 is replaced by proline, an amino acid with highly similar properties. This amino acid position is poorly conserved in available 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 variant remains unclear. |
Baylor Genetics | RCV001336971 | SCV001530512 | uncertain significance | Neuronal ceroid lipofuscinosis 5 | 2018-03-01 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Genome- |
RCV001336971 | SCV002027055 | uncertain significance | Neuronal ceroid lipofuscinosis 5 | 2021-09-05 | criteria provided, single submitter | clinical testing |