Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668969 | SCV000793655 | uncertain significance | Usher syndrome type 1F | 2017-08-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001002355 | SCV001160260 | uncertain significance | not specified | 2019-02-25 | criteria provided, single submitter | clinical testing | The PCDH15 c.5068C>T; p.Gln1690Ter variant (rs368397508), to our knowledge, has not been reported in the medical literature; however, this variant is listed in the ClinVar database as a variant of uncertain significance (Variation ID: 553502; reported as NM_033056.3(PCDH15):c.*12861C>T). This variant introduces an early termination codon in the terminal exon (37/37) of the NM_001142769.1 (CD2.1) transcript, which may not lead to nonsense-mediated decay, and it is expected to truncate the mature peptide by 6%. When annotated using the NM_033056.3 transcript (which encodes the longest peptide), this variant is positioned downstream of the 3' UTR. The c.5068C>T variant is found in the non-Finnish European population with an allele frequency of 0.004% (3/75,182 alleles) in the Genome Aggregation Database. Due to limited information, the clinical significance of this variant is uncertain. |