ClinVar Miner

Submissions for variant NM_000266.4(NDP):c.1A>G (p.Met1Val)

dbSNP: rs28933685
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Total submissions: 3
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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

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