ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.998+4A>G

dbSNP: rs796052745
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188178 SCV000241785 uncertain significance not provided 2013-09-23 criteria provided, single submitter clinical testing c.998+4 A>G: IVS10+4 A>G in intron 10 of the MFSD8 gene (NM_152778.2)The c.998+4 A>G variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In silico analysis predicts this variant may damage or destroy the natural splice donor site in intron 10 leading to abnormal splicing. However, in the absence of RNA/functional studies, the actual effect of the c.998+4 A>G variant is unknown. Therefore, based on the currently available information, it is unclear whether c.998+4 A>G is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp RCV000529743 SCV000639432 uncertain significance Neuronal ceroid lipofuscinosis 7 2023-11-04 criteria provided, single submitter clinical testing This sequence change falls in intron 10 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. ClinVar contains an entry for this variant (Variation ID: 206159). 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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