ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.753A>G (p.Glu251=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Biochemistry, Faculty of Medicine, University of Khartoum RCV002284295 SCV002573698 uncertain significance Neuronal ceroid lipofuscinosis 7 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV002284295 SCV003258484 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-08-10 criteria provided, single submitter clinical testing This sequence change affects codon 251 of the MFSD8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MFSD8 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. 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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