ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.1187G>A (p.Arg396His) (rs121918721)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000032731 SCV000790243 likely pathogenic Autosomal recessive congenital ichthyosis 1 2017-03-09 criteria provided, single submitter clinical testing
Department of Genetics,Sultan Qaboos University Hospital, Oman RCV000032731 SCV000891665 pathogenic Autosomal recessive congenital ichthyosis 1 2017-12-30 criteria provided, single submitter curation
Invitae RCV001038244 SCV001201708 pathogenic not provided 2019-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 396 of the TGM1 protein (p.Arg396His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs121918721, ExAC 0.01%). This variant has been observed in individual(s) with autosomal recessive congenital ichthyosis (PMID: 19500103, 23689228, 26762237, 27025581). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 39533). This variant has been reported to affect TGM1 protein function (PMID: 19500103). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000032731 SCV000056495 pathogenic Autosomal recessive congenital ichthyosis 1 2009-08-01 no assertion criteria provided literature only

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