Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000778431 | SCV000914676 | likely pathogenic | Acral peeling skin syndrome | 2018-11-12 | criteria provided, single submitter | clinical testing | The TGM5 c.255delC (p.Ser86AlafsTer17) variant results in a frameshift, and is predicted to result in premature termination of the protein. The p.Ser86AlafsTer17 variant is reported in two studies in which it is found in a compound heterozygous state in three patients including two brothers, all diagnosed with peeling skin syndrome. The two brothers carried the variant in trans with a deletion variant in the splice donor site of intron 7, while the third individual carried the variant in trans with a missense variant (Szczecinska et al 2014; van der Velden et al. 2015). Control data are not available for this variant which is reported at a frequency of 0.002087 in the Ashkenazi Jewish population of the Genome Aggregation Database. Based on the evidence and potential impact of stop-gained variants, the p.Ser86AlafsTer17 is classified as likely pathogenic for peeling skin syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
Gene |
RCV001008784 | SCV001168576 | pathogenic | not provided | 2023-04-21 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 24628291, 25644735) |