ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) (rs139544503)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755497 SCV000603190 likely benign not provided 2017-10-10 criteria provided, single submitter clinical testing The c.3855C>T variant has not been previously associated with any aortopathy or connective tissue disorder and is listed in the ClinVar database as likely benign or benign (Variation ID: 136882). This variant is rare in the general population, and is listed in the Genome Aggregation Database (gnomAD) browser with a frequency in non-Finnish European populations of 0.14% (identified in 102 out of 71,872 chromosomes). However, this variant affects a weakly conserved nucleotide (Alamut software v 2.8.1), does not alter the amino acid sequence of COL5A1 protein, and is not predicted to alter natural COL5A1 mRNA splicing (Alamut software v 2.8.1). Therefore, c.3855C>T variant is likely to be benign.
Ambry Genetics RCV000250634 SCV000319629 likely benign Cardiovascular phenotype 2015-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000124441 SCV000167874 benign not specified 2013-05-24 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 RCV000232982 SCV000283489 benign Ehlers-Danlos syndrome, classic type 2017-12-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124441 SCV000302204 likely benign not specified criteria provided, single submitter clinical testing

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