ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.863+4A>G

gnomAD frequency: 0.00001  dbSNP: rs752035164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180705 SCV000233185 uncertain significance not provided 2014-11-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515300 SCV003282815 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-09-01 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the MFSD8 gene. It does not directly change the encoded amino acid sequence of the MFSD8 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs752035164, gnomAD 0.004%). This variant has been observed in individuals with neuronal ceroid lipofuscinosis (PMID: 31741823, 33084218). ClinVar contains an entry for this variant (Variation ID: 199189). 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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