ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.247T>C (p.Phe83Leu)

gnomAD frequency: 0.00001  dbSNP: rs571555515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246675 SCV001420050 uncertain significance Methylmalonic aciduria, cblB type 2021-08-30 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 83 of the MMAB protein (p.Phe83Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs571555515, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with MMAB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001246675 SCV002088702 uncertain significance Methylmalonic aciduria, cblB type 2020-02-29 no assertion criteria provided clinical testing

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