ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.187T>A (p.Cys63Ser)

dbSNP: rs758166293
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001858491 SCV002310672 uncertain significance not provided 2021-07-08 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 690609). This variant has not been reported in the literature in individuals affected with HOXB13-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with serine at codon 63 of the HOXB13 protein (p.Cys63Ser). The cysteine residue is moderately conserved and there is a moderate physicochemical difference between cysteine and serine.
Laboratory of Virology, Microbiology, Quality and Medical Biotechnologies, Faculty of Sciences and Techniques - Mohammedia, Hassan II University of Casablanca RCV000855912 SCV000993903 uncertain significance Prostate cancer, hereditary, 1 no assertion criteria provided clinical testing

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