ClinVar Miner

Submissions for variant NM_015047.3(EMC1):c.787-1G>A

gnomAD frequency: 0.00001  dbSNP: rs772560574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981002 SCV002281708 likely pathogenic not provided 2021-09-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects an acceptor splice site in intron 7 of the EMC1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EMC1 are known to be pathogenic (PMID: 26572623, 26942288, 29271071). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with EMC1-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005361899 SCV005917824 likely pathogenic Cerebellar atrophy, visual impairment, and psychomotor retardation; 2022-10-31 criteria provided, single submitter research

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