ClinVar Miner

Submissions for variant NM_000328.3(RPGR):c.179G>T (p.Gly60Val) (rs62638634)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085072 SCV000779681 pathogenic not provided 2019-01-16 criteria provided, single submitter clinical testing The G60V variant in the RPGR gene has been reported previously in association with X-linked retinitis pigmentosa (Buraczynska et al., 1997; Sharon et al., 2000). The G60V variant is not observed in large population cohorts (Lek et al., 2016). Although the G60V variant is a conservative amino acid substitution, functional studies demonstrate that this variant impairs RPGR protein interaction with the RPGRIP1 protein (Patil et al., 2012). We interpret G60V as a pathogenic variant.
Invitae RCV000822760 SCV000963577 pathogenic Primary ciliary dyskinesia 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 60 of the RPGR protein (p.Gly60Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with retinitis pigmentosa in one  family (PMID: 9855162) and is observed in several unrelated individuals with this condition (PMID: 9399904, 10937588). ClinVar contains an entry for this variant (Variation ID: 9902). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074755 SCV001240350 pathogenic Retinal dystrophy 2019-05-19 criteria provided, single submitter clinical testing
OMIM RCV000010580 SCV000030806 pathogenic Retinitis pigmentosa 15 1998-12-01 no assertion criteria provided literature only
Retina International RCV000085072 SCV000117209 not provided not provided no assertion provided not provided

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