ClinVar Miner

Submissions for variant NM_000091.5(COL4A3):c.1A>C (p.Met1Leu) (rs1396602090)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670747 SCV000795642 likely pathogenic Alport syndrome, autosomal recessive 2017-11-13 criteria provided, single submitter clinical testing
Invitae RCV001382714 SCV001581616 pathogenic not provided 2020-04-27 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the COL4A3 mRNA. The next in-frame methionine is located at codon 209. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. Disruption of the initiator codon has been observed in individual(s) with autosomal recessive Alport syndrome (PMID: 12028435, 23297803, 24854265, 26809805). ClinVar contains an entry for this variant (Variation ID: 555012). For these reasons, this variant has been classified as Pathogenic.

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