ClinVar Miner

Submissions for variant NM_018116.4(MSTO1):c.1099-1G>A

dbSNP: rs745944305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV001269342 SCV002512595 pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 2021-04-20 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PS4 supporting, PM2, PM3
Labcorp Genetics (formerly Invitae), Labcorp RCV005094283 SCV005812622 pathogenic not provided 2024-11-27 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 10 of the MSTO1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MSTO1 are known to be pathogenic (PMID: 28544275, 29339779, 31463572). This variant is present in population databases (rs745944305, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with MSTO1-related mitochondrial myopathy (PMID: 29339779). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 987949). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV001269342 SCV001448689 pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 2020-12-03 no assertion criteria provided literature only

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