Submissions for variant NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter)

gnomAD frequency: 0.00092  dbSNP: rs138597671

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV000680028	SCV000807467	pathogenic	Beaded hair	2017-09-01	criteria provided, single submitter	clinical testing	This nonsense variant was found once in our laboratory maternally inherited in a 3-year-old female with short stature, failure to thrive, skin anomalies, brittle & sparse hair, recurrent unexplained fevers. However, mutations associated with monilethrix have been missense. While reduced penetrance has been reported for the condition, our lab has identified this variant in 18 additional individuals without mention of brittle/sparse hair.
Genome-Nilou Lab	RCV000680028	SCV001593263	uncertain significance	Beaded hair	2021-05-12	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003237985	SCV002010485	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Mendelics	RCV000680028	SCV002516641	pathogenic	Beaded hair	2022-05-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003237985	SCV005074528	uncertain significance	not provided	2024-06-01	criteria provided, single submitter	clinical testing