ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) (rs149425237)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000250630 SCV000319523 uncertain significance Cardiovascular phenotype 2019-03-18 criteria provided, single submitter clinical testing The p.V643I variant (also known as c.1927G>A), located in coding exon 18 of the PLOD1 gene, results from a G to A substitution at nucleotide position 1927. The valine at codon 643 is replaced by isoleucine, an amino acid with highly similar properties. This alteration was reported in a high myopia whole exome sequencing cohort; however, clinical history was limited (Kloss BA et al. Invest. Ophthalmol. Vis. Sci., 2017 Apr;58:1982-1990). This amino acid position is highly conserved in available vertebrate species. 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.
Illumina Clinical Services Laboratory,Illumina RCV000311967 SCV000347925 uncertain significance Ehlers-Danlos syndrome, hydroxylysine-deficient 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000506012 SCV000604866 uncertain significance not specified 2017-04-27 criteria provided, single submitter clinical testing
Invitae RCV000311967 SCV000631710 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2020-11-24 criteria provided, single submitter clinical testing
GeneDx RCV001091324 SCV000714996 likely benign not provided 2020-12-24 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28384719)
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091324 SCV001247282 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001091324 SCV001715250 uncertain significance not provided 2019-08-11 criteria provided, single submitter clinical testing

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