ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.2842G>A (p.Gly948Ser)

dbSNP: rs1555303073
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000590892 SCV000681422 pathogenic Optic nerve hypoplasia 2018-02-14 criteria provided, single submitter research The specific variant has previously been seen in schizencephaly with epilepsy and cerebral palsy, and other variants in COL4A1 in a number of studies have been seen in optic nerve hypoplasia. This individual has optic nerve hypoplasia, epilepsy and cerebral palsy, consistent with the phenotype seen in other individuals with missense variants in COL4A1. Also, the variant is de novo.

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