ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1032TCT[2] (p.Leu347del)

dbSNP: rs765373403
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000210826 SCV000799464 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-04-19 criteria provided, single submitter clinical testing
Invitae RCV001376620 SCV001419057 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing This variant, c.1038_1040del, results in the deletion of 1 amino acid(s) of the MUT protein (p.Leu347del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs765373403, gnomAD 0.006%). This variant has been observed in individual(s) with methylmalonic acidemia (PMID: 15643616, 15781192, 16281286, 26790480). This variant is also known as c.1036-1038delCTT, p.L346del. ClinVar contains an entry for this variant (Variation ID: 225184). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000210826 SCV002790356 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-11-02 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV000210826 SCV000267121 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2013-05-05 no assertion criteria provided research
Natera, Inc. RCV001835726 SCV002077383 pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2021-09-20 no assertion criteria provided clinical testing

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