ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3411= (p.Gly1137=) (rs6434312)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124510 SCV000167943 benign not specified 2012-11-29 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.
Invitae RCV001080649 SCV000262272 benign Ehlers-Danlos syndrome, classic type 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588807 SCV000696672 benign not provided 2017-03-15 criteria provided, single submitter clinical testing Variant summary: The COL5A2 c.3411C>T (p.Gly1137Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools suggest that this change eliminates a cryptic donor cite. ESE finder predicts that this variant may create an SF2/ASF ESE site at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in 115667/121246 control chromosomes (55328 homozygotes) at a frequency of 0.9539861, which is approximately 763188 times the estimated maximal expected allele frequency of a pathogenic COL5A2 variant (0.0000013), suggesting that "C" allele is an ancestral allele. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.

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