ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.122G>A (p.Arg41His) (rs139528613)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000371779 SCV000470553 likely benign Ehlers-Danlos syndrome, procollagen proteinase deficient 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000260651 SCV000470554 likely benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000443633 SCV000518770 benign not specified 2016-10-24 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.
Athena Diagnostics Inc RCV000443633 SCV000612913 benign not specified 2017-06-01 criteria provided, single submitter clinical testing
Invitae RCV000757105 SCV000627284 benign not provided 2018-12-07 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757105 SCV000885219 likely benign not provided 2017-05-21 criteria provided, single submitter clinical testing The p.Arg41His variant (rs139528613) was reported as identified by whole exome sequencing in three African-American mothers with premature ruptures of membranes (Modi 2017). However, the p.Arg41His variant has been identified with allele frequency of 1.0 percent (on 242 out of 24,024 chromosomes) in African populations and with an overall population frequency of 0.09 percent (identified on 258 out of 277,154 chromosomes) and in gnomAD browser. Additionally, the p.Arg41His variant is also listed in the ClinVar database with current classification of benign or likely benign (Variation ID 360944).

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