ClinVar Miner

Submissions for variant NM_007289.4(MME):c.929del (p.Asn310fs)

dbSNP: rs2108308008
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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 RCV001921563 SCV002200548 pathogenic not provided 2021-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn310Ilefs*5) in the MME gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MME are known to be pathogenic (PMID: 26991897). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MME-related conditions. For these reasons, this variant has been classified as Pathogenic.

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