ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys)

gnomAD frequency: 0.00077  dbSNP: rs112250644
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551515 SCV000631700 likely benign Ehlers-Danlos syndrome, kyphoscoliotic type 1 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314964 SCV000739524 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-07-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001562122 SCV001784840 likely benign not provided 2020-05-12 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000551515 SCV002048016 uncertain significance Ehlers-Danlos syndrome, kyphoscoliotic type 1 2021-04-29 criteria provided, single submitter clinical testing The PLOD1 c.1582G>A; p.Glu528Lys variant (rs112250644), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 459811). This variant is found in the African/African-American population with an allele frequency of 0.27% (68/24928 alleles) in the Genome Aggregation Database. The glutamate at codon 528 is moderately conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.537). Due to limited information, the clinical significance of the p.Glu528Lys variant is uncertain at this time.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330759 SCV004039247 uncertain significance not specified 2023-08-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001562122 SCV004227752 uncertain significance not provided 2022-10-18 criteria provided, single submitter clinical testing BS1

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