Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001851525 | SCV002291315 | uncertain significance | not provided | 2022-08-07 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1021). This variant has not been reported in the literature in individuals affected with MTMR14-related conditions. This variant is present in population databases (rs121434510, gnomAD 0.005%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 462 of the MTMR14 protein (p.Tyr462Cys). |
| OMIM | RCV000001076 | SCV000021226 | risk factor | MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF | 2006-11-01 | no assertion criteria provided | literature only |