ClinVar Miner

Submissions for variant NM_000381.4(MID1):c.1798dup (p.His600fs)

dbSNP: rs398123342
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790799 SCV000224820 pathogenic not provided 2012-11-07 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000173680 SCV000781737 pathogenic X-linked Opitz G/BBB syndrome 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000790799 SCV003444466 pathogenic not provided 2022-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His600Profs*12) in the MID1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acid(s) of the MID1 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Opitz GBBB syndrome (PMID: 32926417; Invitae). In at least one individual the variant was observed to be de novo. This variant is also known as c.1798_1799-insC. ClinVar contains an entry for this variant (Variation ID: 92876). For these reasons, this variant has been classified as Pathogenic.

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