ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)

gnomAD frequency: 0.00008  dbSNP: rs752334702
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000198189 SCV000249834 uncertain significance not provided 2024-08-29 criteria provided, single submitter clinical testing Identified in a patient with ischemic stroke and internal carotid artery dissection (PMID: 36411388); Occurs in the triple helical domain at the X position in the canonical Gly-X-Y repeat; although this variant may have an effect on normal protein folding and function, missense substitution at the X position is not a common mechanism of disease (PMID: 22696272; HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22696272, 36411388)
Labcorp Genetics (formerly Invitae), Labcorp RCV002229054 SCV000283494 benign Ehlers-Danlos syndrome, classic type, 1 2023-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315548 SCV000738682 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-07-03 criteria provided, single submitter clinical testing The p.P1436L variant (also known as c.4307C>T), located in coding exon 55 of the COL5A1 gene, results from a C to T substitution at nucleotide position 4307. The proline at codon 1436 is replaced by leucine, an amino acid with similar properties. This alteration has been reported in a subject with internal carotid artery dissection (Härtl J et al. J Neurol, 2023 Mar;270:1501-1511). This amino acid position is well 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.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659461 SCV000781276 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500601 SCV002776535 uncertain significance Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-11-15 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV003483570 SCV004228651 not provided Ehlers-Danlos syndrome, classic type no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-21-2019 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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