ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.221G>C (p.Ser74Thr)

gnomAD frequency: 0.00001  dbSNP: rs759313071
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001070273 SCV001235495 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 74 of the MFSD8 protein (p.Ser74Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is not present in population databases (ExAC no frequency). 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 tolerated. 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.
Natera, Inc. RCV001833667 SCV002084802 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-03-30 no assertion criteria provided clinical testing

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