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 This variant has not been reported in the literature in individuals affected with MMAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1017834). 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. This variant is not present in population databases (gnomAD no frequency). 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.
Natera, Inc. RCV001317043 SCV002088687 uncertain significance Methylmalonic aciduria, cblB type 2021-07-06 no assertion criteria provided clinical testing

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