Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000634751 | SCV000756094 | uncertain significance | Ehlers-Danlos syndrome, kyphoscoliotic type 1 | 2022-07-09 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 597 of the PLOD1 protein (p.Pro597Ser). This variant is present in population databases (rs141692280, gnomAD 0.07%). 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: 529348). 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: "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 | RCV002528867 | SCV003720331 | uncertain significance | Inborn genetic diseases | 2022-04-25 | criteria provided, single submitter | clinical testing | The c.1789C>T (p.P597S) alteration is located in exon 17 (coding exon 17) of the PLOD1 gene. This alteration results from a C to T substitution at nucleotide position 1789, causing the proline (P) at amino acid position 597 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003323650 | SCV004028573 | uncertain significance | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |