ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.240T>G (p.Ile80Met)

dbSNP: rs1578912301
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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 RCV001231269 SCV001403784 uncertain significance Neuronal ceroid lipofuscinosis 7 2019-09-18 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 80 of the MFSD8 protein (p.Ile80Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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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