ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1009C>T (p.Arg337Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002581987 SCV003488799 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 337 of the MFSD8 protein (p.Arg337Cys). This variant is present in population databases (rs373923336, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MFSD8 protein function. 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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