ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.479C>T (p.Thr160Ile)

gnomAD frequency: 0.00001  dbSNP: rs1162750836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196673 SCV001367304 uncertain significance Neuronal ceroid lipofuscinosis 7 2019-11-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP5.
Labcorp Genetics (formerly Invitae), Labcorp RCV001196673 SCV002128002 uncertain significance Neuronal ceroid lipofuscinosis 7 2021-11-12 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 160 of the MFSD8 protein (p.Thr160Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with late infantile neuronal ceroid lipofuscinosis (PMID: 21990111). ClinVar contains an entry for this variant (Variation ID: 930772). 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 C15"). 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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