ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)

dbSNP: rs993001712
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001297889 SCV001486927 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-08-09 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 139 of the MFSD8 protein (p.Arg139Cys). This variant is not present in population databases (gnomAD no frequency). 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: 1001570). 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.
CeGaT Center for Human Genetics Tuebingen RCV001310496 SCV001500325 likely pathogenic not provided 2021-01-01 criteria provided, single submitter clinical testing
Mendelics RCV001297889 SCV002517322 likely pathogenic Neuronal ceroid lipofuscinosis 7 2022-05-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001310496 SCV003808801 uncertain significance not provided 2021-02-08 criteria provided, single submitter clinical testing

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