ClinVar Miner

Submissions for variant NM_017909.4(RMND1):c.1318-11T>C

gnomAD frequency: 0.00002  dbSNP: rs765780346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333979 SCV001526707 uncertain significance Combined oxidative phosphorylation defect type 11 2018-07-03 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546664 SCV002949608 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the RMND1 gene. It does not directly change the encoded amino acid sequence of the RMND1 protein. This variant is present in population databases (rs765780346, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RMND1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032011). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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