ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1403G>A (p.Gly468Glu)

dbSNP: rs1560715852
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712299 SCV000842763 uncertain significance not provided 2017-10-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001214251 SCV001385924 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-01-21 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). ClinVar contains an entry for this variant (Variation ID: 586145). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 468 of the MFSD8 protein (p.Gly468Glu).

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