ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1236G>A (p.Pro412=)

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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 RCV002899307 SCV003242618 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-12-05 criteria provided, single submitter clinical testing This sequence change affects codon 412 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 present in population databases (rs767048437, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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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