ClinVar Miner

Submissions for variant NM_144991.3(TSPEAR):c.1594_1595insA (p.Phe532fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hacettepe Pediatric Genetics Laboratory, Hacettepe University RCV004556872 SCV004171187 likely pathogenic Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 2023-11-28 criteria provided, single submitter clinical testing Molecular analysis of the TSPEAR gene identified a novel homozygous frameshift variant (c.1594_1595insA, p.Phe532TyrfsTer26) in two patients who clinically diagnosed with Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis; ECTD14 syndrome. This variant was neither found in ExAC nor 1000G. This change was classified as “ likely pathogenic” according to the ACMG guidelines and predicted to be disease causing by in silico analysis such as MutationTaster.

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