ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1517T>C (p.Leu506Pro)

dbSNP: rs1736211859
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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 RCV001345033 SCV001539129 uncertain significance Neuronal ceroid lipofuscinosis 7 2020-01-14 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MFSD8-related conditions. This sequence change replaces leucine with proline at codon 506 of the MFSD8 protein (p.Leu506Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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