ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4481C>T (p.Pro1494Leu)

gnomAD frequency: 0.00002  dbSNP: rs773728118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000200035 SCV000249912 uncertain significance not provided 2014-09-25 criteria provided, single submitter clinical testing p.Pro1494Leu (CCG>CTG): c.4481 C>T in exon 58 of the COL5A1 gene (NM_000093.3) The P1494L variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The P1494L variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P1494L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, missense mutations in nearby residues (G1486C, G1489R, G1489E, G1492S) have been reported in association with EDS, supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant.This variant was found in TAAD
Labcorp Genetics (formerly Invitae), Labcorp RCV003765243 SCV004616310 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-12-11 criteria provided, single submitter clinical testing

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