ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.1391C>T (p.Ala464Val)

gnomAD frequency: 0.00001  dbSNP: rs758095101
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001300711 SCV001489860 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-11-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 464 of the MFSD8 protein (p.Ala464Val). This variant is present in population databases (rs758095101, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with MFSD8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1004070). 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.
Natera, Inc. RCV001835436 SCV002084753 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-08-24 no assertion criteria provided clinical testing

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