ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.4364G>A (p.Gly1455Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Refractive Surgery Department, Bright Eye Hospital RCV003324669 SCV004030251 likely pathogenic Keratoconus 2023-08-27 no assertion criteria provided clinical testing In family 3, a heterozygous nonsynonymous mutation in exon 54 of COL5A2 (c.4364G>A, p.G1455E) was detected. This variant is also located in the COLFI domain, close to the C-terminal end (1265–1499 aa), within the fourth cross-linking site, which is predicted as being highly conserved among species and probably damaging.

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