ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) (rs61739195)

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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 RCV000589919 SCV000883653 benign not provided 2017-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000243390 SCV000319453 benign Cardiovascular phenotype 2015-03-02 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,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 RCV000124449 SCV000703175 benign not specified 2016-11-22 criteria provided, single submitter clinical testing
GeneDx RCV000124449 SCV000167882 benign not specified 2013-02-21 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 RCV000372978 SCV000478568 likely benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589919 SCV000695396 benign not provided 2017-03-10 criteria provided, single submitter clinical testing Variant summary: The COL5A1 c.4135C>T (p.Pro1379Ser) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution. 4/5 in silico tools predict a damaging outcome for this variant, however these predictions have yet to be confirmed by functional studies. This variant was found in 900/121304 control chromosomes (7 homozygotes) at a frequency of 0.0074194, which is approximately 5935 times the estimated maximal expected allele frequency of 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. Taken together, this variant is classified as benign.
Invitae RCV000204040 SCV000262161 benign Ehlers-Danlos syndrome, classic type 2018-01-03 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124449 SCV000302208 benign not specified criteria provided, single submitter clinical testing

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