ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1332+1del

dbSNP: rs771542321
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670332 SCV000795172 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001861791 SCV002243480 pathogenic not provided 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (Splice site) in the MUT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). This variant is present in population databases (rs771542321, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with methylmalonic acidemia (PMID: 16281286). This variant is also known as c.1332+1delG. ClinVar contains an entry for this variant (Variation ID: 554656). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000670332 SCV002811025 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2022-04-26 criteria provided, single submitter clinical testing
GeneDx RCV001861791 SCV003805436 pathogenic not provided 2023-02-22 criteria provided, single submitter clinical testing Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26672496, 27233228, 25959030, 32754920, 16281286, 21048060)
PreventionGenetics, part of Exact Sciences RCV004752987 SCV005361003 pathogenic MMUT-related disorder 2024-04-29 no assertion criteria provided clinical testing The MMUT c.1332+1delG variant is predicted to result in a deletion affecting a canonical splice site. This variant has been reported along with a second causative MMUT variant in multiple individuals with isolated methylmalonic acidemia (Worgan et al. 2006. PubMed ID: 16281286; Hörster et al. 2020. PubMed ID: 32754920). This variant is reported in 0.00088% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant is interpreted as pathogenic.

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