ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) (rs147266928)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757100 SCV000885214 likely benign not provided 2018-04-26 criteria provided, single submitter clinical testing The p.Asn1394Ser variant was reported in a patient presented with EDS/OI overlap, who inherited this variant from an unaffected mother. Since then, this variant has been classified as benign by Collagen Diagnostic Laboratory in a test comparison with outside laboratories (Pepin 2014). This variant is listed in the Genome Aggregation Database (gnomAD) with an overall population frequency of 0.08 percent (identified on 224 out of 276,988 chromosomes, including 2 homozygotes) and has been reported to the ClinVar database with a benign/likely benign classification (Variation ID: 379751). Given the current evidence, the p.Asn1394Ser is considered to be likely benign.
Center for Human Genetics, Inc RCV000659364 SCV000781175 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000424654 SCV000517108 likely benign not specified 2017-10-20 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.
Invitae RCV000535824 SCV000627263 benign Osteogenesis imperfecta type I 2017-05-23 criteria provided, single submitter clinical testing

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