ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.82C>A (p.Leu28Ile)

gnomAD frequency: 0.00001  dbSNP: rs776894307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241280 SCV001414289 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 28 of the PLOD1 protein (p.Leu28Ile). This variant is present in population databases (rs776894307, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with PLOD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 966563). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003284110 SCV004003432 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-26 criteria provided, single submitter clinical testing The p.L28I variant (also known as c.82C>A), located in coding exon 2 of the PLOD1 gene, results from a C to A substitution at nucleotide position 82. The leucine at codon 28 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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