ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys)

gnomAD frequency: 0.00001  dbSNP: rs886055354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000382829 SCV000425624 uncertain significance Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003593948 SCV004320194 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-12-20 criteria provided, single submitter clinical testing
GeneDx RCV004725173 SCV005333025 uncertain significance not provided 2024-03-27 criteria provided, single submitter clinical testing Reported in an individual with features of classic Ehlers-Danlos syndrome who also harbored a pathogenic variant in COL5A1 and a second variant in COL5A2; however, segregation information was not provided (Cortini F et al. (2018) Meta Gene. 18 :132-136); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: Cortini2018[CaseReport])

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