ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.1A>C (p.Met1Leu)

dbSNP: rs1884749143
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001067639 SCV001232708 pathogenic Methylmalonic aciduria, cblB type 2023-10-03 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the MMAB mRNA. The next in-frame methionine is located at codon 202. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with a positive newborn screening result for MMAB-related disease (Invitae). ClinVar contains an entry for this variant (Variation ID: 861176). This variant disrupts a region of the MMAB protein in which other variant(s) (p.Arg191Gln) have been determined to be pathogenic (PMID: 16410054, 23707710, 27591164). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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