ClinVar Miner

Submissions for variant NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)

gnomAD frequency: 0.00004  dbSNP: rs752022363
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Total submissions: 4
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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, Hospital Israelita Albert Einstein 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.

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