ClinVar Miner

Submissions for variant NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) (rs142978362)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000249131 SCV000319540 benign Cardiovascular phenotype 2015-04-09 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000488399 SCV000514183 benign not provided 2019-10-08 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000488399 SCV000574744 likely benign not provided 2020-10-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000999754 SCV000604862 benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2019-06-03 criteria provided, single submitter clinical testing
Invitae RCV000999754 SCV000631726 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000999754 SCV001253493 likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient 2018-01-13 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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