ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.910C>A (p.Gln304Lys)

dbSNP: rs1737985759
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245044 SCV001418306 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 304 of the MFSD8 protein (p.Gln304Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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