ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys)

gnomAD frequency: 0.00001  dbSNP: rs777789161
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001310682 SCV001500577 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV001806111 SCV002051819 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-12-08 criteria provided, single submitter clinical testing This COL5A1 variant (rs777789161) is rare (<0.1%) in a large population dataset (gnomAD: 7/282326 total alleles; 0.0025%; no homozygotes) and has been reported in ClinVar. Three bioinformatics tools queried predicts that this substitution would be tolerated. The glutamic acid residue at this position is mostly conserved across the vertebrate species assessed. This variant is not predicted to affect normal exon 7 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, we consider the clinical significance of c.1123G>A to be uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV001806111 SCV002169531 benign Ehlers-Danlos syndrome, classic type, 1 2023-05-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416185 SCV004106393 uncertain significance COL5A1-related disorder 2023-06-14 criteria provided, single submitter clinical testing The COL5A1 c.1123G>A variant is predicted to result in the amino acid substitution p.Glu375Lys. This substitution does not affect a residue within the COL5A1 triple helical domain. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-137622280-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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