ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.275dup (p.Asp92fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002857955 SCV003228707 pathogenic not provided 2022-11-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with MYSM1-related conditions. This sequence change creates a premature translational stop signal (p.Asp92Glufs*2) in the MYSM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MYSM1 are known to be pathogenic (PMID: 24288411, 28115216). This variant is present in population databases (rs755178846, gnomAD 0.0009%).

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