Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000387095 | SCV000336949 | uncertain significance | not provided | 2015-11-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
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, |
RCV002519149 | SCV003808848 | uncertain significance | Methylmalonic aciduria, cblB type | 2022-04-22 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000387095 | SCV005191976 | uncertain significance | not provided | criteria provided, single submitter | not provided |