ClinVar Miner

Submissions for variant NM_144773.3(PROKR2):c.253C>G (p.Arg85Gly) (rs141090506)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413366 SCV000490743 pathogenic not provided 2015-04-23 criteria provided, single submitter clinical testing The R85G missense variant in the PROKR2 gene has been reported previously in the heterozygous state inassociation with Kallmann syndrome and related disorders (Sarfati et al., 2010; Raivio et al., 2012). It wasobserved at a low frequency in control individuals in the 1000 Genomes Database and at a low frequency inindividuals of African American ancestry in the NHLBI Exome Sequencing Project. Additionally, multiplevariants have been reported at the R85 residue in the PROKR2 gene (R85C, R85L, R85H) (Stenson, et al.,2009). Therefore, we interpret R85G to be a pathogenic variant.
Illumina Clinical Services Laboratory,Illumina RCV000345795 SCV000434480 likely benign Hypogonadism with anosmia 2016-06-14 criteria provided, single submitter clinical testing

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