ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5375A>G (p.Lys1792Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003227422 SCV003923927 uncertain significance not provided 2022-11-07 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); At the protein level, in silico analysis supports that this missense variant does not alter protein structure/function; At the mRNA level, in silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV005102432 SCV005774088 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-12-25 criteria provided, single submitter clinical testing

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