Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002036774 | SCV002317892 | uncertain significance | not provided | 2022-05-04 | 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 714 of the MME protein (p.Pro714Leu). This variant is present in population databases (rs201412057, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with MME-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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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 | RCV004044892 | SCV005011464 | uncertain significance | Inborn genetic diseases | 2023-10-03 | criteria provided, single submitter | clinical testing | The c.2141C>T (p.P714L) alteration is located in exon 22 (coding exon 21) of the MME gene. This alteration results from a C to T substitution at nucleotide position 2141, causing the proline (P) at amino acid position 714 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Mayo Clinic Laboratories, |
RCV002036774 | SCV005410444 | uncertain significance | not provided | 2023-11-20 | criteria provided, single submitter | clinical testing | PP3 |