ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1103-10_1103-6del

dbSNP: rs1212979817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704714 SCV000714380 likely benign not provided 2023-03-15 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Labcorp Genetics (formerly Invitae), Labcorp RCV001348678 SCV001542987 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-08-12 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the MFSD8 gene. It does not directly change the encoded amino acid sequence of the MFSD8 protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 506491). 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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