ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly)

gnomAD frequency: 0.00007  dbSNP: rs377497101
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233542 SCV001406142 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 372 of the PLOD1 protein (p.Asp372Gly). This variant is present in population databases (rs377497101, gnomAD 0.02%). 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: 960082). 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: "Deleterious"; PolyPhen-2: "Benign"; 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 RCV002436913 SCV002747954 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-07-22 criteria provided, single submitter clinical testing The p.D372G variant (also known as c.1115A>G), located in coding exon 11 of the PLOD1 gene, results from an A to G substitution at nucleotide position 1115. The aspartic acid at codon 372 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323827 SCV004028562 uncertain significance not specified 2023-07-21 criteria provided, single submitter clinical testing

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