ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4969G>A (p.Asp1657Asn)

dbSNP: rs892181156
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002267456 SCV002549554 uncertain significance not provided 2022-01-17 criteria provided, single submitter clinical testing Has not been reported in association with Ehlers-Danlos syndrome; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens, et al., 2012; Stenson et al., 2014); This variant is associated with the following publications: (PMID: 33281878)

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