Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002512631 | SCV003255133 | uncertain significance | not provided | 2023-12-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 336 of the MTMR14 protein (p.Arg336Gln). This variant is present in population databases (rs121434509, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of MTMR14-related conditions (PMID: 17008356). ClinVar contains an entry for this variant (Variation ID: 1020). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MTMR14 protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects MTMR14 function (PMID: 17008356, 19590496). 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. |
| OMIM | RCV000001075 | SCV000021225 | risk factor | MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF | 2006-11-01 | no assertion criteria provided | literature only |