ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.52C>T (p.Pro18Ser)

dbSNP: rs2149008240
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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 RCV001916226 SCV002182080 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 18 of the MFSD8 protein (p.Pro18Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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