ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.238C>G (p.Leu80Val)

gnomAD frequency: 0.00001  dbSNP: rs746454126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002230794 SCV000547890 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001285617 SCV001472079 uncertain significance Ehlers-Danlos syndrome, classic type, 2 2019-08-08 criteria provided, single submitter clinical testing The COL5A2 c.238C>G; p.Leu80Val variant (rs746454126), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 408291). This variant is found in the East Asian population with an allele frequency of 0.044% (8/18,388 alleles) in the Genome Aggregation Database. The leucine at codon 80 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of this variant is uncertain at this time.

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