Submissions for variant NM_000381.4(MID1):c.1102C>T (p.Arg368Ter)

dbSNP: rs2147287460

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003101603	SCV003444500	pathogenic	not provided	2023-12-01	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Arg368*) in the MID1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MID1 are known to be pathogenic (PMID: 15558842, 17221865, 21326312). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Opitz syndrome (PMID: 11030761, 25304119). ClinVar contains an entry for this variant (Variation ID: 1702864). For these reasons, this variant has been classified as Pathogenic.
GeneDx	RCV003101603	SCV005201637	pathogenic	not provided	2024-01-08	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25304119, 25525159, 34411415, 11030761)
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV002279783	SCV005849924	pathogenic	X-linked Opitz G/BBB syndrome	2025-02-24	criteria provided, single submitter	clinical testing
GeneReviews	RCV002279783	SCV002567817	not provided	X-linked Opitz G/BBB syndrome		no assertion provided	literature only