ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu)

gnomAD frequency: 0.00003  dbSNP: rs772379819
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314247 SCV000738650 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-12-06 criteria provided, single submitter clinical testing The p.P435L variant (also known as c.1304C>T), located in coding exon 8 of the COL5A1 gene, results from a C to T substitution at nucleotide position 1304. The proline at codon 435 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002232760 SCV001497513 benign Ehlers-Danlos syndrome, classic type, 1 2023-09-17 criteria provided, single submitter clinical testing
Johns Hopkins Genomics, Johns Hopkins University RCV002232760 SCV002570402 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2022-06-28 criteria provided, single submitter clinical testing This COL5A1 variant (rs772379819) is rare (<0.1%) in a large population dataset (gnomAD: 10/280002 total alleles; 0.004%; no homozygotes) and has been reported in ClinVar. Three bioinformatic tools queried predict that this substitution would be damaging, and the proline residue at this position is strongly evolutionarily conserved across the vertebrate species assessed. Bioinformatic analysis predicts that this variant would not affect normal exon 8 splicing, although this has not been confirmed experimentally to our knowledge. Due to insufficient evidence, we consider the clinical significance of c.1304C>T to be uncertain at this time.
Fulgent Genetics, Fulgent Genetics RCV002491326 SCV002794537 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-10-11 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573546 SCV001799575 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573546 SCV001965848 uncertain significance not provided no assertion criteria provided clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483689 SCV004228690 not provided Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 01-13-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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