ClinVar Miner

Submissions for variant NM_201631.4(TGM5):c.255del (p.Ser86fs)

dbSNP: rs778322388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina 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.
GeneDx 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)

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