ClinVar Miner

Submissions for variant NM_000088.3(COL1A1):c.2021G>A (p.Gly674Glu) (rs1567757713)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755938 SCV000883618 likely pathogenic not provided 2017-05-25 criteria provided, single submitter clinical testing The p.Gly674Glu variant has not been reported in the medical literature, gene specific variant databases including ClinVar nor has it been previously identified by our laboratory. The p.Gly674Glu variant is absent from general population databases such as 1000 Genomes, NHLBI GO Exome Sequencing Project (ESP), the Exome Aggregation Consortium (ExAC) browser and the Genome Aggregation Consortium (gnomAD) browser. This variant disrupts the repeating Gly-X-Y sequence motif of the collagen triple helix and is predicted to impair collagen function (Ben Amor 2011).

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