ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.598G>A (p.Asp200Asn) (rs142890619)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196539 SCV000249873 uncertain significance not specified 2017-08-24 criteria provided, single submitter clinical testing The D200N variant in the COL5A1 gene has not been published as a mutation or reported as a benign polymorphism to our knowledge. The D200N variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, but was observed in 1/1006 alleles (0.1%) from individuals of European ancestry in the 1000 Genomes Project. The D200N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties, and occurs at a position that is conserved across species. Consequently, in silico analysis is inconsistent in its predictions as to whether this variant is damaging to the protein structure/function. No missense mutations in nearby residues have been reported in association with classic-type EDS, and the majority of mutations in the COL5A1 gene are truncating changes that result in a nonfunctional COL5A1 allele (Malfait F et al., 2011).Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. This variant was found in COL5A1,TAAD
Invitae RCV000230081 SCV000283505 likely benign Ehlers-Danlos syndrome, classic type 2019-12-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000196539 SCV000302246 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000619239 SCV000738568 likely benign Cardiovascular phenotype 2019-01-14 criteria provided, single submitter clinical testing Insufficient evidence;Subpopulation frequency in support of benign classification;Other data supporting benign classification

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