ClinVar Miner

Submissions for variant NM_006361.6(HOXB13):c.54G>T (p.Leu18Phe)

dbSNP: rs1597935263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001024189 SCV001186161 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-12 criteria provided, single submitter clinical testing The p.L18F variant (also known as c.54G>T), located in coding exon 1 of the HOXB13 gene, results from a G to T substitution at nucleotide position 54. The leucine at codon 18 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003669176 SCV004401010 uncertain significance not provided 2023-01-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with HOXB13-related conditions. 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: 825782). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 18 of the HOXB13 protein (p.Leu18Phe).
Fulgent Genetics, Fulgent Genetics RCV005021333 SCV005644239 uncertain significance Prostate cancer, hereditary, 9 2024-05-14 criteria provided, single submitter clinical testing

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