ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.2724G>A (p.Pro908=) (rs41310207)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124428 SCV000167861 benign not specified 2012-11-02 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.
PreventionGenetics,PreventionGenetics RCV000124428 SCV000302173 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273068 SCV000478546 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000460830 SCV000559986 benign Ehlers-Danlos syndrome, classic type 2019-12-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587689 SCV000695389 benign not provided 2017-03-14 criteria provided, single submitter clinical testing Variant summary: The COL5A1 c.2724G>A (p.Pro908Pro) variant involves the alteration of a conserved nucleotide causing a synonymous change, which 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding. The variant of interest has been observed in the large, broad control population, ExAC, with an allele frequency of 3220/120556 (1/37, 68 homozygotes), which is approximately 21368 times the estimated maximal expected allele frequency for a pathogenic COL5A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Therefore, the variant of interest has been classified as Benign.
Ambry Genetics RCV000617308 SCV000738334 benign Cardiovascular phenotype 2015-02-06 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000460830 SCV000885240 benign Ehlers-Danlos syndrome, classic type 2018-07-09 criteria provided, single submitter clinical testing

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