ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys)

dbSNP: rs1876543576
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003153965 SCV003843218 pathogenic See cases 2020-08-28 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV002246256 SCV001439342 pathogenic Brain small vessel disease 1 with or without ocular anomalies 2020-08-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004727057 SCV005337410 likely pathogenic COL4A1-related disorder 2024-05-13 no assertion criteria provided clinical testing The COL4A1 c.4843G>A variant is predicted to result in the amino acid substitution p.Glu1615Lys. This variant has been reported as de novo in an individual with COL4A1/2-related brain defects, which were observed both during prenatal and postnatal development (Itai et al. 2021. PubMed ID: 32732225). This variant has also been observed in an individual (inheritance not determined) with bilateral porencephaly and other COL4A1-related symptoms (Yoneda et al. 2013. PubMed ID: 23225343; Nakamura et al. 2021. PubMed ID: 34281745). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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