ClinVar Miner

Submissions for variant NM_020956.2(PRX):c.354G>A (p.Lys118=) (rs1044654884)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422185 SCV000531354 likely benign not specified 2016-08-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756571 SCV000884417 likely benign not provided 2018-01-22 criteria provided, single submitter clinical testing The c.354G>A; p.Lys118Lys variant does not alter the amino acid sequence of the PRX protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in the medical literature or in gene specific variation databases. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.0008% (identified on 2 out of 244,536 chromosomes). Based on the available information, the c.354G>A variant is likely to be benign.

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