ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.563_577del (p.Val188_Ala192del)

dbSNP: rs1555274496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317043 SCV001507685 pathogenic Methylmalonic aciduria, cblB type 2023-07-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1017834). This variant, c.563_577del, results in the deletion of 5 amino acid(s) of the MMAB protein (p.Val188_Ala192del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MMAB-related conditions. This variant disrupts a region of the MMAB protein in which other variant(s) (p.Arg191Trp) have been determined to be pathogenic (PMID: 20556797, 23707710, 27591164, 30022420). 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.
Natera, Inc. RCV001317043 SCV002088687 uncertain significance Methylmalonic aciduria, cblB type 2021-07-06 no assertion criteria provided clinical testing

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