Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000415260 | SCV000493066 | uncertain significance | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2016-12-08 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV000415260 | SCV002812047 | uncertain significance | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 2022-05-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002524669 | SCV003524223 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 95 of the MUT protein (p.Pro95Leu). This variant is present in population databases (rs190834116, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with MUT-related conditions. ClinVar contains an entry for this variant (Variation ID: 374213). 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. |
Ambry Genetics | RCV003168607 | SCV003875139 | uncertain significance | Inborn genetic diseases | 2023-01-25 | criteria provided, single submitter | clinical testing | The c.284C>T (p.P95L) alteration is located in exon 2 (coding exon 1) of the MUT gene. This alteration results from a C to T substitution at nucleotide position 284, causing the proline (P) at amino acid position 95 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Prevention |
RCV003392232 | SCV004119516 | uncertain significance | MMUT-related condition | 2023-02-15 | criteria provided, single submitter | clinical testing | The MMUT c.284C>T variant is predicted to result in the amino acid substitution p.Pro95Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.056% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-49426896-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |