ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=)

dbSNP: rs1553513577
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506295 SCV000603212 likely benign not provided 2017-05-03 criteria provided, single submitter clinical testing The c.3348G>A variant is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP) , and the Exome Aggregation Consortium (ExAC) browser. However, it does not alter the amino acid sequence of the COL5A2 protein and computational splice site prediction algorithms do not predict a change in the nearest splice site or creation of a cryptic splice site. This variant has not been reported in association with aortopathy in medical literature or in gene specific variation databases. Based on these observations, the c.3348G>A variant is likely to be benign.
Invitae RCV002060169 SCV002367439 likely benign Ehlers-Danlos syndrome, classic type, 1 2021-09-08 criteria provided, single submitter clinical testing

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