ClinVar Miner

Submissions for variant NM_000088.4(COL1A1):c.3479G>A (p.Gly1160Asp)

dbSNP: rs886039726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000254780 SCV000322675 pathogenic not provided 2023-07-05 criteria provided, single submitter clinical testing Occurs in the triple helical domain and replaces a glycine in a canonical Gly-X-Y repeat; missense substitution of a canonical glycine residue is expected to disrupt normal protein folding and function, and this is an established mechanism of disease (Jovanovic et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 34007986)
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000254780 SCV000603112 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing The p.Gly1160Asp variant has not been reported in the medical literature nor has it been previously identified by our laboratory. It has been reported to ClinVar (Variation ID 265680). The p.Gly1160Asp 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 Database (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). Altogether, the p.Gly1160Asp variant has been classified as likely pathogenic.

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