ClinVar Miner

Submissions for variant NM_052845.4(MMAB):c.79C>T (p.Leu27Phe)

gnomAD frequency: 0.00007  dbSNP: rs150895111
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000387095 SCV000336949 uncertain significance not provided 2015-11-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002519149 SCV002956749 uncertain significance Methylmalonic aciduria, cblB type 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 27 of the MMAB protein (p.Leu27Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs150895111, ExAC 0.02%). 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: 284358). 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: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV002518922 SCV003739761 uncertain significance Inborn genetic diseases 2022-03-16 criteria provided, single submitter clinical testing The c.79C>T (p.L27F) alteration is located in exon 1 (coding exon 1) of the MMAB gene. This alteration results from a C to T substitution at nucleotide position 79, causing the leucine (L) at amino acid position 27 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV002519149 SCV003808848 uncertain significance Methylmalonic aciduria, cblB type 2022-04-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000387095 SCV005191976 uncertain significance not provided criteria provided, single submitter not provided

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