ClinVar Miner

Submissions for variant NM_001085487.3(MYSM1):c.1432C>T (p.Arg478Ter)

gnomAD frequency: 0.00001  dbSNP: rs748065332
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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 RCV001999941 SCV002233638 pathogenic not provided 2023-07-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1452695). This premature translational stop signal has been observed in individual(s) with Diamond-Blackfan anemia (PMID: 30503522). 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 sequence change creates a premature translational stop signal (p.Arg478*) 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).

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