Submissions for variant NM_006361.6(HOXB13):c.85G>C (p.Ala29Pro)

dbSNP: rs756970136

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002536185	SCV003026257	uncertain significance	not provided	2022-07-03	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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 690975). 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 replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 29 of the HOXB13 protein (p.Ala29Pro).
Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca	RCV000856278	SCV000994269	uncertain significance	Prostate cancer, hereditary, 1		no assertion criteria provided	clinical testing