ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr)

gnomAD frequency: 0.00001  dbSNP: rs1354785209
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002234764 SCV000949330 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-10-22 criteria provided, single submitter clinical testing
GeneDx RCV000997625 SCV002526378 uncertain significance not provided 2022-05-26 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005231366 SCV005877079 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2023-12-19 criteria provided, single submitter clinical testing The COL5A2 c.2981T>C; p.Ile994Thr variant (rs1354785209), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 653415). This variant is only observed on two alleles in the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. Computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.616). Due to limited information, the clinical significance of this variant is uncertain at this time.

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