ClinVar Miner

Submissions for variant NM_001017361.3(KHDC3L):c.334C>T (p.Gln112Ter)

gnomAD frequency: 0.00001  dbSNP: rs745776920
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000190600 SCV000245628 likely pathogenic Hydatidiform mole, recurrent, 2 2014-10-16 criteria provided, single submitter clinical testing The p.Gln112X variant in KHDC3L has not been previously reported in individuals with disease or in large population studies. This nonsense variant leads to a premature termination codon at position 112, which is predicted to remove roughly half of the protein and therefore likely to result in a null or loss of function effect. Biallelic null variants (variants in both copies of the gene) have been shown to cause hydatidiform mole (Parry 2011, Reddy 2013). In summary, although additional studies are required to confirm a null effect, the p.Gln112X variant in KHDC3L is likely pathogenic for hydatidiform mole in an autosomal recessive manner.

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