ClinVar Miner

Submissions for variant NM_001371596.2(MFSD8):c.14G>A (p.Arg5Gln)

dbSNP: rs139409959
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246483 SCV001419841 uncertain significance Neuronal ceroid lipofuscinosis 7 2022-04-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 5 of the MFSD8 protein (p.Arg5Gln). 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: 970833). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. RCV001835268 SCV002084818 uncertain significance Late-infantile neuronal ceroid lipofuscinosis 2020-04-06 no assertion criteria provided clinical testing

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