ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.82C>A (p.Leu28Met)

gnomAD frequency: 0.00001  dbSNP: rs1312200383
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002314234 SCV000738615 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-11-17 criteria provided, single submitter clinical testing The p.L28M variant (also known as c.82C>A), located in coding exon 1 of the COL5A1 gene, results from a C to A substitution at nucleotide position 82. The leucine at codon 28 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved on limited sequence alignment. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
GeneDx RCV001553163 SCV001773980 uncertain significance not provided 2024-04-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV001860394 SCV002204929 benign Ehlers-Danlos syndrome, classic type, 1 2024-04-25 criteria provided, single submitter clinical testing

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