ClinVar Miner

Submissions for variant NM_001278074.1(COL5A1):c.660C>G (p.Asp220Glu) (rs570691491)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000620837 SCV000738683 uncertain significance Cardiovascular phenotype 2017-11-01 criteria provided, single submitter clinical testing Insufficient evidence
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757122 SCV000885244 uncertain significance not provided 2018-01-15 criteria provided, single submitter clinical testing The c.660C>G variant has not been reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. It is present in the genome Aggregation Database with an overall population frequency of 0.001% (4 out of 277,104 chromosomes). The aspartic acid in position 220 is highly conserved, considering 12 species (Alamut software v.2.10.0), and computational algorithms make conflicting predictions regarding the effect of this variant (SIFT: tolerated, Poly-Phen 2: benign, Mutation Taster: disease causing). Therefore, based on the available information, the clinical significance of the p.Asp220Glu variant cannot be determined with certainty.

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