ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.504+1G>A

dbSNP: rs1562800908
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814019 SCV001755151 likely pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000032983 SCV002020806 pathogenic Combined oxidative phosphorylation defect type 11 2019-09-03 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000032983 SCV004698186 pathogenic Combined oxidative phosphorylation defect type 11 2024-03-04 criteria provided, single submitter clinical testing A homozygous 5’ splice site variant in intron 2 of the RMND1 gene that affects the invariant GT donor splice site downstream of exon 2 (c.504+1G>A) was detected. The observed variant has previously been reported in patients in affected with Infantile encephalo- neuromyopathy [PMID: 23022099]. The variant has not been reported in the 1000 genomes, gnomAD (v3.1), gnomdAD (v2.1) and topmed databases. The reference region is conserved across species. In summary, the variant meets our criteria to be classified as pahogenic.
OMIM RCV000032983 SCV000056762 pathogenic Combined oxidative phosphorylation defect type 11 2012-10-05 no assertion criteria provided literature only

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