ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu)

gnomAD frequency: 0.00001  dbSNP: rs1056466895
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002233879 SCV000936136 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-10-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000700 SCV001157739 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2018-07-25 criteria provided, single submitter clinical testing The COL5A2 c.3638C>T; p.Pro1213Leu variant (rs1056466895), to our knowledge, has not been described in the medical literature or in gene-specific databases, and is only observed on 2 alleles in the Genome Aggregation Database. The proline at codon 1213 is highly conserved, but computational algorithms (PolyPhen-2: probably damaging, SIFT: tolerated) predict conflicting effects of this variant on protein structure/function. Due to lack of clinical and functional information regarding this variant, its clinical significance cannot be determined with certainty.
GeneDx RCV003332251 SCV004040226 uncertain significance not provided 2023-03-27 criteria provided, single submitter clinical testing 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; Has not been previously published as pathogenic or benign to our knowledge

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