ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) (rs145404046)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243851 SCV000319685 uncertain significance Cardiovascular phenotype 2017-12-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Blueprint Genetics RCV000196178 SCV000188742 likely benign not specified 2015-10-08 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc RCV000659476 SCV000781291 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000766820 SCV000249962 uncertain significance not provided 2018-03-13 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL5A2 gene. The P659L variant has not been published as pathogenic or been reported as benign to our knowledge. This variant has been identified independently and/or in conjunction with additional cardiogenetic variants in individuals referred for Marfan/TAAD genetic testing at GeneDx. So far, segregation data is limited or absent for these individuals due to the lack of clinical information provided and/or insufficient participation by informative family members. The P659L variant is observed in 73/25790 (0.3%) alleles from individuals of European (Finnish) ancestry and in 61/126222 (0.05%) alleles from individuals of European (Non-Finnish) ancestry in large population cohorts (Lek et al., 2016). Nevertheless, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.
Invitae RCV000534620 SCV000631573 likely benign Ehlers-Danlos syndrome, classic type 2017-06-14 criteria provided, single submitter clinical testing

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