Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001266924 | SCV001445105 | likely pathogenic | Inborn genetic diseases | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001330817 | SCV001522634 | pathogenic | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | 2019-05-04 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Laboratorio de Genetica e Diagnostico Molecular, |
RCV002252353 | SCV002523976 | pathogenic | See cases | 2021-03-29 | criteria provided, single submitter | clinical testing | ACMG classification criteria: PVS1, PS4, PM2 |
Invitae | RCV003546689 | SCV004265084 | pathogenic | not provided | 2023-09-27 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 985820). This sequence change creates a premature translational stop signal (p.Leu296Argfs*26) in the MSTO1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSTO1 are known to be pathogenic (PMID: 28544275, 29339779, 31463572). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with MSTO1-related conditions. For these reasons, this variant has been classified as Pathogenic. |