Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000011433 | SCV001141843 | pathogenic | Atrophia bulborum hereditaria | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001857331 | SCV002115055 | pathogenic | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the NDP mRNA. The next in-frame methionine is located at codon 12. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individuals with Norrie disease (PMID: 7627181, 7814011, 14635119, 26547627). ClinVar contains an entry for this variant (Variation ID: 10687). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000011433 | SCV000031665 | pathogenic | Atrophia bulborum hereditaria | 1995-01-01 | no assertion criteria provided | literature only |