ClinVar Miner

Submissions for variant NM_000093.4(COL5A1):c.1431G>A (p.Ala477=) (rs61729545)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617754 SCV000738354 benign Cardiovascular phenotype 2015-04-02 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,Last nucleotide of exon
GeneDx RCV000124489 SCV000167922 benign not specified 2013-03-21 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 RCV000288071 SCV000478529 benign Ehlers-Danlos syndrome, type 7A 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588822 SCV000695384 benign not provided 2017-03-15 criteria provided, single submitter clinical testing Variant summary: The COL5A1 c.1431G>A (p.Ala477Ala) variant involves the alteration of a nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict weakening the canonical donor site, however no functional studies confirming effect of this variant on splicing have been published at the time of evaluation. This variant was found in 2210/121094 control chromosomes (208 homozygotes) at a frequency of 0.0182503, which is approximately 14600 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 RCV000473739 SCV000559962 benign Ehlers-Danlos syndrome, classic type 2017-08-16 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124489 SCV000302138 benign not specified criteria provided, single submitter clinical testing

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