ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.804C>T (p.Thr268=) (rs140758113)

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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 RCV000254057 SCV000320105 likely benign Cardiovascular phenotype 2015-08-30 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Illumina Clinical Services Laboratory,Illumina RCV000347703 SCV000347857 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.
Invitae RCV000347703 SCV000631735 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2020-11-19 criteria provided, single submitter clinical testing
GeneDx RCV001530988 SCV000716462 likely benign not provided 2020-10-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000347703 SCV001160020 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2018-10-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001530988 SCV001745909 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001530988 SCV001806888 likely benign not provided no assertion criteria provided clinical testing

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