ClinVar Miner

Submissions for variant NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) (rs750247691)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001362306 SCV001558317 uncertain significance not provided 2020-03-11 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 69 of the ARMC9 protein (p.Gly69Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs750247691, ExAC 0.003%). This variant has been observed in individual(s) with Joubert syndrome (PMID: 28625504). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 427930). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
UW Hindbrain Malformation Research Program,University of Washington RCV000491981 SCV000579394 pathogenic ARMC9-related Joubert syndrome 2017-05-01 no assertion criteria provided research
OMIM RCV000515488 SCV000611577 pathogenic Joubert syndrome 30 2017-08-16 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV001034532 SCV001197893 likely pathogenic Joubert syndrome no assertion criteria provided research

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