ClinVar Miner

Submissions for variant NM_201631.4(TGM5):c.1498C>T (p.Arg500Ter) (rs144532387)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000371924 SCV000391225 uncertain significance Peeling skin syndrome 2 2017-04-27 criteria provided, single submitter clinical testing The TGM5 c.1498C>T (p.Arg500Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. The p.Arg500Ter variant has been reported in one study in which it is found in a compound heterozygous state with a missense variant in one patient with peeling skin syndrome (van den Velden et al. 2015). Family studies revealed that the patient inherited the p.Arg500Ter variant from the unaffected mother and the second missense variant from the unaffected father. Control data are unavailable for this variant which is reported at a frequency of 0.0001 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the evidence and potential impact of stop-gained variants, the p.Arg500Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for peeling skin syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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