Submissions for variant NM_006361.6(HOXB13):c.189C>A (p.Cys63Ter)

dbSNP: rs1597934839

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001858485	SCV002207893	uncertain significance	not provided	2022-08-23	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 690498). This variant has not been reported in the literature in individuals affected with HOXB13-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys63*) in the HOXB13 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in HOXB13 cause disease.
Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca	RCV000855801	SCV000993792	uncertain significance	Prostate cancer, hereditary, 1		no assertion criteria provided	clinical testing