ClinVar Miner

Submissions for variant NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs)

dbSNP: rs869320624
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000416596 SCV000265638 likely pathogenic Congenital anomaly of kidney and urinary tract criteria provided, single submitter research
Invitae RCV000236490 SCV003522749 pathogenic not provided 2021-12-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 219099). This premature translational stop signal has been observed in individual(s) with EMC1-related conditions (PMID: 26942288). This sequence change creates a premature translational stop signal (p.Pro874Argfs*21) in the EMC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EMC1 are known to be pathogenic (PMID: 26572623, 26942288, 29271071).
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000236490 SCV000258465 likely pathogenic not provided flagged submission research
OMIM RCV000210401 SCV000266488 pathogenic Cerebellar atrophy, visual impairment, and psychomotor retardation; 2016-03-29 no assertion criteria provided literature only

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