ClinVar Miner

Submissions for variant NM_007289.4(MME):c.1601+5G>A

gnomAD frequency: 0.00003  dbSNP: rs201612792
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557145 SCV001778853 uncertain significance not provided 2025-03-11 criteria provided, single submitter clinical testing Intronic variant directly or indirectly altering the +5 splice site in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001557145 SCV002931997 uncertain significance not provided 2022-07-03 criteria provided, single submitter clinical testing This sequence change falls in intron 16 of the MME gene. It does not directly change the encoded amino acid sequence of the MME protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs201612792, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MME-related conditions. ClinVar contains an entry for this variant (Variation ID: 1194421). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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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