ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1534A>G (p.Arg512Gly)

dbSNP: rs745541140
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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 RCV001988376 SCV002272554 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 512 of the MFSD8 protein (p.Arg512Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs745541140, ExAC 0.001%). 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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