ClinVar Miner

Submissions for variant NM_024529.5(CDC73):c.109A>T (p.Lys37Ter)

dbSNP: rs886039716
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255022 SCV000322664 pathogenic not provided 2016-08-17 criteria provided, single submitter clinical testing This variant is denoted CDC73 c.109A>T at the cDNA level and p.Lys37Ter (K37X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.

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