ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1132A>C (p.Thr378Pro)

gnomAD frequency: 0.00001  dbSNP: rs757379111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823628 SCV002073215 uncertain significance Ehlers-Danlos syndrome, classic type, 1 criteria provided, single submitter clinical testing The missense variant p.T378P in COL5A1 (NM_000093.5) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The missense variant c.1132A>C (p.T378P) in COL5A1 (NM_000093.5) is observed in 2/30614 (0.0065%) alleles from individuals of South Asian background in the gnomAD dataset (Exome Aggregation Consortium et al., 2016), but was not seen in the homozygous state. The variant is damaging by predictions and the residue is conserved across species. For these reasons, this variant has been classified as Uncertain Significance
Labcorp Genetics (formerly Invitae), Labcorp RCV001823628 SCV005824933 benign Ehlers-Danlos syndrome, classic type, 1 2024-03-13 criteria provided, single submitter clinical testing

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