ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) (rs76148000)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000586971 SCV000603199 benign not provided 2017-05-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617533 SCV000738331 benign Cardiovascular phenotype 2015-02-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124494 SCV000337383 benign not specified 2015-11-20 criteria provided, single submitter clinical testing
GeneDx RCV000124494 SCV000167927 benign not specified 2013-02-25 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000345304 SCV000425655 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586971 SCV000696668 benign not provided 2017-03-21 criteria provided, single submitter clinical testing Variant summary: The COL5A2 c.1081A>C (p.Met361Leu) variant causes a missense change involving the alteration of a conserved nucleotide. 3/3 in silico tools predict a benign outcome (SNPs&GO and MutationTaster not captured here due to low reliability index and p-value, respectively). This variant has been observed in a large, broad control population, ExAC, in 2216/120978 control chromosomes (38 homozygotes) at a frequency of 0.0183174, which is approximately 2931 times the estimated maximal expected allele frequency of a pathogenic COL5A2 variant (0.0000063), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000205728 SCV000261989 benign Ehlers-Danlos syndrome, classic type 2017-08-07 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124494 SCV000303972 benign not specified criteria provided, single submitter clinical testing

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