Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000020627 | SCV000221139 | likely pathogenic | Nephropathic cystinosis | 2015-02-15 | criteria provided, single submitter | literature only | |
Invitae | RCV002513143 | SCV000816935 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Inborn genetic diseases | 2024-01-04 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 8 of the CTNS gene. RNA analysis indicates that a similar copy number variant induces altered splicing and may result in an absent or disrupted protein product. This variant is present in population databases (rs771633120, gnomAD 0.008%). A similar copy number variant has been observed in individual(s) with infantile cystinosis (PMID: 11562417). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 898–900_x0001_+24del27 . ClinVar contains an entry for this variant (Variation ID: 21442). Studies have shown that a similar copy number variant results in multiple aberrant spliced transcripts and introduces a premature termination codon (PMID: 11562417). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
Laboratory of Cyto- |
RCV001843459 | SCV002102789 | likely pathogenic | Infantile nephropathic cystinosis | 2022-03-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002243658 | SCV002808694 | pathogenic | Ocular cystinosis; Juvenile nephropathic cystinosis; Nephropathic cystinosis | 2022-03-02 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000020627 | SCV004212931 | pathogenic | Nephropathic cystinosis | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000020627 | SCV000041139 | pathologic | Nephropathic cystinosis | 2011-08-11 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |
Sydney Genome Diagnostics, |
RCV001328195 | SCV001449313 | pathogenic | Cystinosis | 2018-03-12 | no assertion criteria provided | clinical testing | This individual is heterozygous for the c.559_561+24del variant in the CTNS gene. This variant has been previously reported multiple times, as 898-900_24del27, in the literature as a known founder mutation, originating in Brittany, France. This deletion has been shown to abolish the splice donor consensus site of CTNS exon 8, resulting in aberrant transcript splicing (Kalatzis et al J Am Soc Nephrol 2001 (12):2170-2174; Attard et al Hum Mol Genetics 1999 8(13):2507-2514). This variant is considered to be pathogenic according to the ACMG guidelines. |