ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2413G>A (p.Gly805Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002285792 SCV002575467 likely pathogenic not provided 2022-06-02 criteria provided, single submitter clinical testing Identified in a patient with recurrent intracerebral hemorrhages and history of infantile hemiparesis in the published literature, however familial segregation studies could not be completed (Vahedi et al., 2007); Identified in a patient with spastic quadriplegia and periventricular leukomalacia in the published literature. Variant was inherited from patient's father with no clinical information provided (van Eyk et al., 2019).; 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; This variant is associated with the following publications: (PMID: 17938367, 31700678, 17379824)

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