ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.631A>G (p.Thr211Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003055379 SCV003341347 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-07-14 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 211 of the MFSD8 protein (p.Thr211Ala). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. This variant is present in population databases (rs777761765, gnomAD 0.006%).

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