ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.195A>G (p.Gln65=)

dbSNP: rs2148943646
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001365864 SCV001562149 uncertain significance Neuronal ceroid lipofuscinosis 7 2016-08-02 criteria provided, single submitter clinical testing This sequence change affects codon 65 of the MFSD8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MFSD8 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MFSD8-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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