ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)

gnomAD frequency: 0.00010  dbSNP: rs375076580
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002232209 SCV001199875 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2021-08-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001036507 SCV001328225 likely benign Ehlers-Danlos syndrome, classic type 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 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001036507 SCV001472624 likely benign Ehlers-Danlos syndrome, classic type 2019-11-19 criteria provided, single submitter clinical testing
GeneDx RCV001755978 SCV002005206 uncertain significance not provided 2019-10-10 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014)
MGZ Medical Genetics Center RCV002232209 SCV002581866 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2022-08-29 criteria provided, single submitter clinical testing
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000581971 SCV000692241 uncertain significance Loeys-Dietz syndrome 2016-09-22 no assertion criteria provided clinical testing

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