ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.153A>G (p.Val51=)

dbSNP: rs587781037
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000126768 SCV000170282 benign not specified 2014-05-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514677 SCV003461517 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-01-12 criteria provided, single submitter clinical testing This sequence change affects codon 51 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). This variant has not been reported in the literature in individuals with MFSD8-related conditions. ClinVar contains an entry for this variant (Variation ID: 138228). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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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