ClinVar Miner

Submissions for variant NM_001034853.2(RPGR):c.1164G>A (p.Ala388=)

gnomAD frequency: 0.11812  dbSNP: rs1801686
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078645 SCV000110501 benign not specified 2013-01-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000078645 SCV000269752 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ala388Ala in exon 10 of RPGR: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 15.5% (1041/6728) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1801686).
PreventionGenetics, part of Exact Sciences RCV000078645 SCV000303601 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078645 SCV000725740 benign not specified 2018-01-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001521357 SCV001730687 benign Primary ciliary dyskinesia 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795053 SCV002033744 benign X-linked cone-rod dystrophy 1 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795054 SCV002033745 benign Macular degeneration, X-linked atrophic 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001795052 SCV002033746 benign Retinitis pigmentosa 3 2021-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001521357 SCV002631424 benign Primary ciliary dyskinesia 2014-12-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000078645 SCV004804401 benign not specified 2024-01-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000085044 SCV005276103 benign not provided criteria provided, single submitter not provided
Retina International RCV000085044 SCV000117180 not provided not provided no assertion provided not provided

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