ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu)

gnomAD frequency: 0.00001  dbSNP: rs575864379
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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 RCV000330446 SCV000425643 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755976 SCV000883665 uncertain significance not provided 2018-05-06 criteria provided, single submitter clinical testing The COL5A2 c.2423C>T; p.Pro808Leu variant (rs575864379), to our knowledge, is not described in the medical literature but is reported as likely benign by one laboratory in ClinVar (Variation ID: 333143) and is observed in the general population at an overall frequency of 0.006% (15/246072 alleles) in the Genome Aggregation Database. The proline at codon 808 is highly conserved, but computational algorithms (PolyPhen-2: possibly damaging, SIFT: tolerated) predict conflicting effects of this variant on protein structure and/or function. Due to limited information regarding this variant, its clinical significance cannot be determined with certainty. Pathogenic variants of COL5A2 are associated with autosomal dominant Ehlers-Danlos syndrome, classic type (MIM: 130000).
Labcorp Genetics (formerly Invitae), Labcorp RCV003758752 SCV004386952 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-03-08 criteria provided, single submitter clinical testing

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